Slc25a22 Variant Search Result - Rat Genome Database

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579 records found for search term Slc25a22

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
155696516	CV1800743	single nucleotide variant	NM_001191061.2(SLC25A22):c.-5G>C	Inborn genetic diseases [RCV002358001]	uncertain significance	11	795011	795011	Human	1	name
13830663	CV579793	single nucleotide variant	NM_001191061.2(SLC25A22):c.*4C>G	Inborn genetic diseases [RCV002318256]	uncertain significance	11	791911	791911	Human	1	name
8692884	CV142850	single nucleotide variant	NM_001191061.2(SLC25A22):c.*17A>C	Early myoclonic encephalopathy [RCV000403654]\|not specified [RCV000128092]	benign\|likely benign	11	791898	791898	Human	1	name
9683817	CV168882	single nucleotide variant	NM_001191061.2(SLC25A22):c.*34A>G	Early myoclonic encephalopathy [RCV000147502]	uncertain significance	11	791881	791881	Human	1	name
10398272	CV202619	single nucleotide variant	NM_001191061.2(SLC25A22):c.*20C>A	not specified [RCV000189314]	likely benign	11	791895	791895	Human		name
11646015	CV315323	single nucleotide variant	NM_001191061.2(SLC25A22):c.-93C>G	Early myoclonic encephalopathy [RCV000268381]	uncertain significance	11	795099	795099	Human	1	name
11608739	CV322137	single nucleotide variant	NM_001191061.2(SLC25A22):c.*39C>T	Early myoclonic encephalopathy [RCV000359261]	uncertain significance	11	791876	791876	Human	1	name
11624077	CV328243	single nucleotide variant	NM_001191061.2(SLC25A22):c.-72T>A	Early myoclonic encephalopathy [RCV000381616]	uncertain significance	11	795078	795078	Human	1	name
12844874	CV374395	single nucleotide variant	NM_001191061.2(SLC25A22):c.-41C>T	not specified [RCV000438778]	benign	11	795047	795047	Human		name
13530217	CV504067	single nucleotide variant	NM_001191061.2(SLC25A22):c.-29C>T	not specified [RCV000600617]	likely benign	11	795035	795035	Human		name
28911206	CV868863	single nucleotide variant	NM_001191061.2(SLC25A22):c.-94C>G	Early myoclonic encephalopathy [RCV001110163]	uncertain significance	11	795100	795100	Human	1	name
126750391	CV1010016	single nucleotide variant	NM_001191061.2(SLC25A22):c.20+5G>A	Developmental and epileptic encephalopathy [RCV001315909]	uncertain significance	11	794982	794982	Human	1	name
8692866	CV142832	single nucleotide variant	NM_001191061.2(SLC25A22):c.-151G>A	Early myoclonic encephalopathy [RCV000336839]\|not specified [RCV000128074]	benign\|uncertain significance	11	795157	795157	Human	1	name
152979697	CV1675731	single nucleotide variant	NM_001191061.2(SLC25A22):c.-201G>T	not provided [RCV002244322]	likely benign	11	798254	798254	Human		name
10051609	CV193677	single nucleotide variant	NM_001191061.2(SLC25A22):c.21-3C>T	Developmental and epileptic encephalopathy [RCV002516736]\|not provided [RCV000177336]	uncertain significance	11	794904	794904	Human	1	name
11600086	CV315281	single nucleotide variant	NM_001191061.2(SLC25A22):c.*940T>C	Early myoclonic encephalopathy [RCV000270773]	uncertain significance	11	790975	790975	Human	1	name
11659785	CV315290	single nucleotide variant	NM_001191061.2(SLC25A22):c.*845T>A	Early myoclonic encephalopathy [RCV000361194]	uncertain significance	11	791070	791070	Human	1	name
11654889	CV315307	single nucleotide variant	NM_001191061.2(SLC25A22):c.*810C>T	Early myoclonic encephalopathy [RCV000321576]	uncertain significance	11	791105	791105	Human	1	name
11661396	CV315309	single nucleotide variant	NM_001191061.2(SLC25A22):c.*780C>T	Early Infantile Epileptic Encephalopathy, Autosomal Recessive [RCV000376256]	uncertain significance	11	791135	791135	Human	1	name
11654933	CV315331	single nucleotide variant	NM_001191061.2(SLC25A22):c.-130C>G	Early myoclonic encephalopathy [RCV000321627]	uncertain significance	11	795136	795136	Human	1	name
11661034	CV315333	single nucleotide variant	NM_001191061.2(SLC25A22):c.-155T>C	Early myoclonic encephalopathy [RCV000372622]\|not provided [RCV001653507]	benign\|uncertain significance	11	795161	795161	Human	1	name
11604217	CV322127	single nucleotide variant	NM_001191061.2(SLC25A22):c.*906G>A	Early myoclonic encephalopathy [RCV000307125]\|not provided [RCV004718503]	benign\|likely benign	11	791009	791009	Human	1	name
11609794	CV322131	single nucleotide variant	NM_001191061.2(SLC25A22):c.*712T>C	Early myoclonic encephalopathy [RCV000372698]	benign\|uncertain significance	11	791203	791203	Human	1	name
11610952	CV322132	single nucleotide variant	NM_001191061.2(SLC25A22):c.*693G>C	Early myoclonic encephalopathy [RCV000388092]	uncertain significance	11	791222	791222	Human	1	name
11611920	CV322136	single nucleotide variant	NM_001191061.2(SLC25A22):c.*453C>T	Early myoclonic encephalopathy [RCV000401091]\|not provided [RCV004718504]	benign	11	791462	791462	Human	8	name
11611920	CV322136	single nucleotide variant	NM_001191061.2(SLC25A22):c.*453C>T	Early myoclonic encephalopathy [RCV000401091]\|not provided [RCV004718504]	benign	11	791462	791463	Human	8	name
11618806	CV328199	single nucleotide variant	NM_001191061.2(SLC25A22):c.*753G>A	Early myoclonic encephalopathy [RCV000317952]	uncertain significance	11	791162	791162	Human	1	name
11658402	CV328200	single nucleotide variant	NM_001191061.2(SLC25A22):c.*510A>G	Early myoclonic encephalopathy [RCV000348541]	uncertain significance	11	791405	791405	Human	1	name
11621172	CV328202	single nucleotide variant	NM_001191061.2(SLC25A22):c.*328C>T	Early myoclonic encephalopathy [RCV000345186]\|not provided [RCV004693065]	uncertain significance	11	791587	791587	Human	1	name
11617460	CV328217	single nucleotide variant	NM_001191061.2(SLC25A22):c.*107G>A	Early myoclonic encephalopathy [RCV000304528]\|not provided [RCV003422252]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	791808	791808	Human	1	name
11613224	CV329517	single nucleotide variant	NM_001191061.2(SLC25A22):c.*841A>T	Early myoclonic encephalopathy [RCV000266570]	benign\|uncertain significance	11	791074	791074	Human	1	name
11612800	CV329525	single nucleotide variant	NM_001191061.2(SLC25A22):c.*760G>A	Early myoclonic encephalopathy [RCV000262805]	uncertain significance	11	791155	791155	Human	1	name
11614601	CV329526	single nucleotide variant	NM_001191061.2(SLC25A22):c.*711G>A	Early myoclonic encephalopathy [RCV000278161]	uncertain significance	11	791204	791204	Human	1	name
11616332	CV329543	single nucleotide variant	NM_001191061.2(SLC25A22):c.*560C>T	Early Infantile Epileptic Encephalopathy, Autosomal Recessive [RCV000293668]	uncertain significance	11	791355	791355	Human	1	name
11615950	CV329550	single nucleotide variant	NM_001191061.2(SLC25A22):c.*436C>T	Early myoclonic encephalopathy [RCV000290366]	benign\|likely benign	11	791479	791479	Human	1	name
11626122	CV329552	single nucleotide variant	NM_001191061.2(SLC25A22):c.*209A>G	Early Infantile Epileptic Encephalopathy, Autosomal Recessive [RCV000407092]	uncertain significance	11	791706	791706	Human	1	name
11615041	CV329563	single nucleotide variant	NM_001191061.2(SLC25A22):c.-141G>A	Early myoclonic encephalopathy [RCV000281834]\|not provided [RCV004718505]	benign\|uncertain significance	11	795147	795147	Human	1	name
597851591	CV3758479	single nucleotide variant	NM_001191061.2(SLC25A22):c.21-6A>G	Developmental and epileptic encephalopathy [RCV005088037]	likely benign	11	794907	794907	Human	1	name
597974209	CV3801827	single nucleotide variant	NM_001191061.2(SLC25A22):c.20+5G>C	Developmental and epileptic encephalopathy [RCV005143816]	uncertain significance	11	794982	794982	Human	1	name
13540769	CV503817	single nucleotide variant	NM_001191061.2(SLC25A22):c.-159G>A	not specified [RCV000615172]	likely benign	11	795165	795165	Human		name
15155936	CV744633	single nucleotide variant	NM_001191061.2(SLC25A22):c.20+7C>A	Developmental and epileptic encephalopathy [RCV000902235]	likely benign	11	794980	794980	Human	1	name
15186156	CV775758	single nucleotide variant	NM_001191061.2(SLC25A22):c.20+7C>T	Developmental and epileptic encephalopathy [RCV000931271]	likely benign	11	794980	794980	Human	1	name
28911113	CV868853	single nucleotide variant	NM_001191061.2(SLC25A22):c.*937G>A	Early myoclonic encephalopathy [RCV001110004]	uncertain significance	11	790978	790978	Human	1	name
28911562	CV868854	single nucleotide variant	NM_001191061.2(SLC25A22):c.*778G>A	Early myoclonic encephalopathy [RCV001110785]	uncertain significance	11	791137	791137	Human	1	name
28911563	CV868855	single nucleotide variant	NM_001191061.2(SLC25A22):c.*746G>C	Early myoclonic encephalopathy [RCV001110786]	uncertain significance	11	791169	791169	Human	1	name
28868861	CV868856	single nucleotide variant	NM_001191061.2(SLC25A22):c.*221C>G	Early myoclonic encephalopathy [RCV001112776]	uncertain significance	11	791694	791694	Human	1	name
28868864	CV868857	single nucleotide variant	NM_001191061.2(SLC25A22):c.*171G>A	Early myoclonic encephalopathy [RCV001112777]\|not provided [RCV004693684]	uncertain significance	11	791744	791744	Human	1	name
28911207	CV868864	single nucleotide variant	NM_001191061.2(SLC25A22):c.-115C>T	Early myoclonic encephalopathy [RCV001110164]	uncertain significance	11	795121	795121	Human	1	name
127237720	CV1078941	single nucleotide variant	NM_001191061.2(SLC25A22):c.294-7A>C	Developmental and epileptic encephalopathy [RCV001414985]	likely benign	11	792995	792995	Human	1	name
127288205	CV1122121	single nucleotide variant	NM_001191061.2(SLC25A22):c.202+9T>C	Developmental and epileptic encephalopathy [RCV001450399]	likely benign	11	794449	794449	Human	1	name
127308007	CV1142994	single nucleotide variant	NM_001191061.2(SLC25A22):c.819-6C>T	Developmental and epileptic encephalopathy [RCV001480478]	likely benign	11	792074	792074	Human	1	name
150500990	CV1284010	single nucleotide variant	NM_001191061.2(SLC25A22):c.21-15C>T	Developmental and epileptic encephalopathy [RCV002073366]\|not provided [RCV001718508]	benign\|likely benign	11	794916	794916	Human	1	name
151797975	CV1346704	single nucleotide variant	NM_001191061.2(SLC25A22):c.818+3G>A	Developmental and epileptic encephalopathy [RCV001990680]	uncertain significance	11	792139	792139	Human	1	name
8692873	CV142839	single nucleotide variant	NM_001191061.2(SLC25A22):c.413-8G>C	Developmental and epileptic encephalopathy [RCV001086628]\|Early myoclonic encephalopathy [RCV000147509]\|not provided [RCV000725287]\|not specified [RCV000128081]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	792735	792735	Human	2	name
151866833	CV1479244	single nucleotide variant	NM_001191061.2(SLC25A22):c.202+1G>A	Developmental and epileptic encephalopathy [RCV002035158]	likely pathogenic	11	794457	794457	Human	1	name
152111563	CV1537187	single nucleotide variant	NM_001191061.2(SLC25A22):c.412+9G>C	Developmental and epileptic encephalopathy [RCV002215564]	likely benign	11	792861	792861	Human	1	name
152103636	CV1548595	single nucleotide variant	NM_001191061.2(SLC25A22):c.20+19C>T	Developmental and epileptic encephalopathy [RCV002079306]	likely benign	11	794968	794968	Human	1	name
152044629	CV1555978	single nucleotide variant	NM_001191061.2(SLC25A22):c.294-9C>T	Developmental and epileptic encephalopathy [RCV002206781]	likely benign	11	792997	792997	Human	1	name
152148497	CV1577029	single nucleotide variant	NM_001191061.2(SLC25A22):c.588-5C>A	Developmental and epileptic encephalopathy [RCV002179085]	likely benign	11	792463	792463	Human	1	name
152132209	CV1585042	single nucleotide variant	NM_001191061.2(SLC25A22):c.147-5C>T	Developmental and epileptic encephalopathy [RCV002083016]	likely benign	11	794518	794518	Human	1	name
152165054	CV1611254	duplication	NM_001191061.2(SLC25A22):c.21-11dup	Developmental and epileptic encephalopathy [RCV002141644]	likely benign	11	794911	794912	Human	1	name
152061469	CV1618477	single nucleotide variant	NM_001191061.2(SLC25A22):c.294-7A>T	Developmental and epileptic encephalopathy [RCV002090304]	likely benign	11	792995	792995	Human	1	name
156373163	CV1901856	single nucleotide variant	NM_001191061.2(SLC25A22):c.20+14C>T	Developmental and epileptic encephalopathy [RCV003092634]	likely benign	11	794973	794973	Human	1	name
156337562	CV1902325	single nucleotide variant	NM_001191061.2(SLC25A22):c.203-9G>A	Developmental and epileptic encephalopathy [RCV003090160]	likely benign	11	793628	793628	Human	1	name
156092149	CV1909842	single nucleotide variant	NM_001191061.2(SLC25A22):c.203-7C>T	Developmental and epileptic encephalopathy [RCV002591951]	likely benign	11	793626	793626	Human	1	name
156126706	CV2005427	single nucleotide variant	NM_001191061.2(SLC25A22):c.742+7G>A	Developmental and epileptic encephalopathy [RCV002663064]	likely benign	11	792297	792297	Human	1	name
155905286	CV2007302	single nucleotide variant	NM_001191061.2(SLC25A22):c.147-3C>T	Developmental and epileptic encephalopathy [RCV002681356]	uncertain significance	11	794516	794516	Human	1	name
10398271	CV202647	duplication	NM_001191061.2(SLC25A22):c.20+18dup	Developmental and epileptic encephalopathy [RCV001521513]\|not specified [RCV000189306]	benign\|likely benign\|conflicting interpretations of pathogenicity	11	794968	794969	Human	1	name
156153334	CV2066715	deletion	NM_001191061.2(SLC25A22):c.21-11del	Developmental and epileptic encephalopathy [RCV002850944]	uncertain significance	11	794912	794912	Human	1	name
156314992	CV2104005	single nucleotide variant	NM_001191061.2(SLC25A22):c.294-3C>A	Developmental and epileptic encephalopathy [RCV002937389]	uncertain significance	11	792991	792991	Human	1	name
156105064	CV2107950	single nucleotide variant	NM_001191061.2(SLC25A22):c.743-8C>T	Developmental and epileptic encephalopathy [RCV002927191]	likely benign	11	792225	792225	Human	1	name
156246372	CV2147926	single nucleotide variant	NM_001191061.2(SLC25A22):c.412+5G>A	Developmental and epileptic encephalopathy [RCV003026189]	uncertain significance	11	792865	792865	Human	1	name
156019456	CV2151741	deletion	NM_001191061.2(SLC25A22):c.147-7del	Developmental and epileptic encephalopathy [RCV003018158]	uncertain significance	11	794520	794520	Human	1	name
156132141	CV2182206	single nucleotide variant	NM_001191061.2(SLC25A22):c.413-6C>T	Developmental and epileptic encephalopathy [RCV003055877]	likely benign	11	792733	792733	Human	1	name
405139398	CV3024918	single nucleotide variant	NM_001191061.2(SLC25A22):c.412+7G>A	Developmental and epileptic encephalopathy [RCV003754856]	likely benign	11	792863	792863	Human	1	name
405120716	CV3051466	deletion	NM_001191061.2(SLC25A22):c.818+9del	Developmental and epileptic encephalopathy [RCV003752977]	likely benign	11	792133	792133	Human	1	name
405022980	CV3139348	single nucleotide variant	NM_001191061.2(SLC25A22):c.819-8C>A	Developmental and epileptic encephalopathy [RCV003829991]	likely benign	11	792076	792076	Human	1	name
11601170	CV315273	single nucleotide variant	NM_001191061.2(SLC25A22):c.*1431T>A	Early myoclonic encephalopathy [RCV000280247]	uncertain significance	11	790484	790484	Human	1	name
11608031	CV315274	single nucleotide variant	NM_001191061.2(SLC25A22):c.*1084C>G	Early myoclonic encephalopathy [RCV000350101]	uncertain significance	11	790831	790831	Human	1	name
11611371	CV315276	single nucleotide variant	NM_001191061.2(SLC25A22):c.*1057C>A	Early myoclonic encephalopathy [RCV000393708]	uncertain significance	11	790858	790858	Human	1	name
11609201	CV315279	single nucleotide variant	NM_001191061.2(SLC25A22):c.*1013C>A	Early myoclonic encephalopathy [RCV000365152]	uncertain significance	11	790902	790902	Human	1	name
11604892	CV322123	single nucleotide variant	NM_001191061.2(SLC25A22):c.*1153C>T	Early myoclonic encephalopathy [RCV000313840]\|not provided [RCV004718502]	benign\|likely benign	11	790762	790762	Human	1	name
11598868	CV322138	single nucleotide variant	NM_001191061.2(SLC25A22):c.819-3C>T	Early myoclonic encephalopathy [RCV000260750]	uncertain significance	11	792071	792071	Human	1	name
11605087	CV322144	single nucleotide variant	NM_001191061.2(SLC25A22):c.742+9A>G	Developmental and epileptic encephalopathy [RCV000460563]\|Early myoclonic encephalopathy [RCV000315937]\|not specified [RCV000440332]	likely benign\|uncertain significance	11	792295	792295	Human	2	name
11653379	CV328198	single nucleotide variant	NM_001191061.2(SLC25A22):c.*1041C>T	Early myoclonic encephalopathy [RCV000310485]	uncertain significance	11	790874	790874	Human	1	name
11625020	CV329515	single nucleotide variant	NM_001191061.2(SLC25A22):c.*1277C>T	Early myoclonic encephalopathy [RCV000393735]	uncertain significance	11	790638	790638	Human	1	name
408383645	CV3507020	single nucleotide variant	NM_001191061.2(SLC25A22):c.587+1G>A	SLC25A22-related disorder [RCV004730779]	uncertain significance	11	792552	792552	Human		name , trait , alternate_id
12847818	CV371745	single nucleotide variant	NM_001191061.2(SLC25A22):c.412+9G>A	Developmental and epileptic encephalopathy [RCV000547698]\|not specified [RCV000444164]	likely benign	11	792861	792861	Human	1	name
12848277	CV371748	single nucleotide variant	NM_001191061.2(SLC25A22):c.293+6G>A	Developmental and epileptic encephalopathy [RCV001296464]\|not provided [RCV001698233]	likely benign\|uncertain significance	11	793523	793523	Human	1	name
12837184	CV372480	single nucleotide variant	NM_001191061.2(SLC25A22):c.412+8C>G	Developmental and epileptic encephalopathy [RCV001476842]\|not specified [RCV000424726]	likely benign	11	792862	792862	Human	1	name
12833260	CV372760	single nucleotide variant	NM_001191061.2(SLC25A22):c.146+7G>A	Developmental and epileptic encephalopathy [RCV000861825]\|not specified [RCV000418180]	likely benign	11	794769	794769	Human	1	name
597853960	CV3743563	single nucleotide variant	NM_001191061.2(SLC25A22):c.743-2A>C	Developmental and epileptic encephalopathy [RCV005060913]	likely pathogenic	11	792219	792219	Human	1	name
12840313	CV374374	single nucleotide variant	NM_001191061.2(SLC25A22):c.743-9C>T	not specified [RCV000430466]	likely benign	11	792226	792226	Human		name
12846780	CV374377	single nucleotide variant	NM_001191061.2(SLC25A22):c.413-7T>C	Developmental and epileptic encephalopathy [RCV001499051]\|not provided [RCV000994537]\|not specified [RCV000442284]	likely benign\|uncertain significance	11	792734	792734	Human	1	name
12840080	CV374385	single nucleotide variant	NM_001191061.2(SLC25A22):c.413-8G>A	not specified [RCV000430019]	likely benign	11	792735	792735	Human		name
597890720	CV3762910	single nucleotide variant	NM_001191061.2(SLC25A22):c.819-9C>G	Developmental and epileptic encephalopathy [RCV005110683]	likely benign	11	792077	792077	Human	1	name
597908056	CV3781605	single nucleotide variant	NM_001191061.2(SLC25A22):c.20+17G>A	Developmental and epileptic encephalopathy [RCV005128293]	likely benign	11	794970	794970	Human	1	name
597849450	CV3793095	single nucleotide variant	NM_001191061.2(SLC25A22):c.20+12G>A	Developmental and epileptic encephalopathy [RCV005145231]	likely benign	11	794975	794975	Human	1	name
597898916	CV3854608	single nucleotide variant	NM_001191061.2(SLC25A22):c.20+16T>C	Developmental and epileptic encephalopathy [RCV005201715]	likely benign	11	794971	794971	Human	1	name
13539349	CV503489	single nucleotide variant	NM_001191061.2(SLC25A22):c.146+9G>A	Developmental and epileptic encephalopathy [RCV002063275]\|not specified [RCV000613159]	likely benign	11	794767	794767	Human	1	name
13538256	CV504471	single nucleotide variant	NM_001191061.2(SLC25A22):c.588-8C>T	not specified [RCV000611559]	likely benign	11	792466	792466	Human		name
13821545	CV567553	single nucleotide variant	NM_001191061.2(SLC25A22):c.587+5G>A	Developmental and epileptic encephalopathy [RCV000696042]	uncertain significance	11	792548	792548	Human	1	name
13813224	CV567556	single nucleotide variant	NM_001191061.2(SLC25A22):c.412+3G>C	Developmental and epileptic encephalopathy [RCV000690003]	uncertain significance	11	792867	792867	Human	1	name
14711193	CV652240	single nucleotide variant	NM_001191061.2(SLC25A22):c.412+8C>T	Developmental and epileptic encephalopathy [RCV000816963]\|Early myoclonic encephalopathy [RCV001112849]	likely benign\|uncertain significance	11	792862	792862	Human	2	name
26906025	CV851921	single nucleotide variant	NM_001191061.2(SLC25A22):c.146+6T>C	Developmental and epileptic encephalopathy [RCV001051516]\|Inborn genetic diseases [RCV002553261]\|not provided [RCV002259379]	uncertain significance	11	794770	794770	Human	2	name
26913437	CV852641	single nucleotide variant	NM_001191061.2(SLC25A22):c.293+3G>A	Developmental and epileptic encephalopathy [RCV001054218]	uncertain significance	11	793526	793526	Human	1	name
28871368	CV868850	single nucleotide variant	NM_001191061.2(SLC25A22):c.*1301C>T	Early myoclonic encephalopathy [RCV001114034]	uncertain significance	11	790614	790614	Human	1	name
28871372	CV868851	single nucleotide variant	NM_001191061.2(SLC25A22):c.*1292T>C	Early myoclonic encephalopathy [RCV001114035]	uncertain significance	11	790623	790623	Human	1	name
28911112	CV868852	single nucleotide variant	NM_001191061.2(SLC25A22):c.*1000C>T	Early myoclonic encephalopathy [RCV001110003]	uncertain significance	11	790915	790915	Human	1	name
127282771	CV1078942	single nucleotide variant	NM_001191061.2(SLC25A22):c.203-19C>T	Developmental and epileptic encephalopathy [RCV001411359]	likely benign	11	793638	793638	Human	1	name
127247196	CV1100663	single nucleotide variant	NM_001191061.2(SLC25A22):c.819-16C>T	Developmental and epileptic encephalopathy [RCV001424642]\|not provided [RCV001647292]	benign\|likely benign	11	792084	792084	Human	1	name
127325194	CV1142996	single nucleotide variant	NM_001191061.2(SLC25A22):c.412+10G>A	Developmental and epileptic encephalopathy [RCV001505934]	likely benign	11	792860	792860	Human	1	name
150408132	CV1191293	single nucleotide variant	NM_001191061.2(SLC25A22):c.412+38C>T	not provided [RCV001565217]	likely benign	11	792832	792832	Human		name
150405826	CV1194578	single nucleotide variant	NM_001191061.2(SLC25A22):c.202+51G>A	not provided [RCV001571804]	likely benign	11	794407	794407	Human		name
150485897	CV1223095	single nucleotide variant	NM_001191061.2(SLC25A22):c.147-22C>T	not provided [RCV001617808]	benign	11	794535	794535	Human		name
150485749	CV1273845	single nucleotide variant	NM_001191061.2(SLC25A22):c.413-36G>C	not provided [RCV001698799]	benign	11	792763	792763	Human		name
150488389	CV1284011	single nucleotide variant	NM_001191061.2(SLC25A22):c.294-20C>T	Developmental and epileptic encephalopathy [RCV002073367]\|not provided [RCV001716094]	benign\|likely benign	11	793008	793008	Human	1	name
151879504	CV1370303	single nucleotide variant	NM_001191061.2(SLC25A22):c.294-19G>A	Developmental and epileptic encephalopathy [RCV001961453]	uncertain significance	11	793007	793007	Human	1	name
8692869	CV142835	single nucleotide variant	NM_001191061.2(SLC25A22):c.202+14C>T	Developmental and epileptic encephalopathy [RCV002055803]\|not specified [RCV000128077]	benign\|likely benign	11	794444	794444	Human	1	name
8692870	CV142836	single nucleotide variant	NM_001191061.2(SLC25A22):c.294-13G>A	Developmental and epileptic encephalopathy [RCV002055804]\|not provided [RCV004718024]\|not specified [RCV000128078]	benign	11	793001	793001	Human	1	name
8692872	CV142838	single nucleotide variant	NM_001191061.2(SLC25A22):c.413-12C>T	Developmental and epileptic encephalopathy [RCV002055805]\|Early myoclonic encephalopathy [RCV000300300]\|not specified [RCV000128080]	benign\|likely benign\|uncertain significance	11	792739	792739	Human	2	name
8692880	CV142846	single nucleotide variant	NM_001191061.2(SLC25A22):c.742+19G>A	Developmental and epileptic encephalopathy [RCV002055806]\|not provided [RCV004718026]\|not specified [RCV000128088]	benign	11	792285	792285	Human	1	name
8692881	CV142847	single nucleotide variant	NM_001191061.2(SLC25A22):c.743-12C>T	Developmental and epileptic encephalopathy [RCV002055807]\|Early myoclonic encephalopathy [RCV001114123]\|not specified [RCV000128089]	benign\|likely benign\|uncertain significance	11	792229	792229	Human	2	name
151873325	CV1467295	single nucleotide variant	NM_001191061.2(SLC25A22):c.818+18C>T	Developmental and epileptic encephalopathy [RCV001925491]	likely benign\|uncertain significance	11	792124	792124	Human	1	name
151792911	CV1482542	single nucleotide variant	NM_001191061.2(SLC25A22):c.146+12G>A	Developmental and epileptic encephalopathy [RCV002047274]	likely benign	11	794764	794764	Human	1	name
152157856	CV1541862	single nucleotide variant	NM_001191061.2(SLC25A22):c.818+20G>C	Developmental and epileptic encephalopathy [RCV002103219]	likely benign	11	792122	792122	Human	1	name
152176011	CV1562157	single nucleotide variant	NM_001191061.2(SLC25A22):c.294-11C>T	Developmental and epileptic encephalopathy [RCV002164151]	likely benign	11	792999	792999	Human	1	name
152030159	CV1566038	single nucleotide variant	NM_001191061.2(SLC25A22):c.203-15C>A	Developmental and epileptic encephalopathy [RCV002086050]	likely benign	11	793634	793634	Human	1	name
152157157	CV1629811	single nucleotide variant	NM_001191061.2(SLC25A22):c.147-12C>G	Developmental and epileptic encephalopathy [RCV002202788]	likely benign	11	794525	794525	Human	1	name
152036394	CV1636335	single nucleotide variant	NM_001191061.2(SLC25A22):c.293+14C>G	Developmental and epileptic encephalopathy [RCV002087278]	likely benign	11	793515	793515	Human	1	name
152133931	CV1646571	single nucleotide variant	NM_001191061.2(SLC25A22):c.742+16G>A	Developmental and epileptic encephalopathy [RCV002137291]	likely benign	11	792288	792288	Human	1	name
152075594	CV1653003	single nucleotide variant	NM_001191061.2(SLC25A22):c.202+12C>T	Developmental and epileptic encephalopathy [RCV002148653]	likely benign	11	794446	794446	Human	1	name
9683822	CV168886	single nucleotide variant	NM_001191061.2(SLC25A22):c.412+10G>T	Developmental and epileptic encephalopathy [RCV000461155]\|Developmental and epileptic encephalopathy, 3 [RCV003114291]\|Early myoclonic encephalopathy [RCV000355189]\|not provided [RCV001711411]\|not specified [RCV000147508]	benign\|likely benign	11	792860	792860	Human	3	name
9683821	CV168887	single nucleotide variant	NM_001191061.2(SLC25A22):c.293+27G>A	not provided [RCV000830024]\|not specified [RCV000147507]	benign\|likely benign	11	793502	793502	Human		name
156273095	CV1899565	single nucleotide variant	NM_001191061.2(SLC25A22):c.293+12G>C	Developmental and epileptic encephalopathy [RCV003086855]	likely benign	11	793517	793517	Human	1	name
155931452	CV1909147	single nucleotide variant	NM_001191061.2(SLC25A22):c.146+16G>A	Developmental and epileptic encephalopathy [RCV002615014]	likely benign	11	794760	794760	Human	1	name
156021744	CV1909592	single nucleotide variant	NM_001191061.2(SLC25A22):c.203-14C>T	Developmental and epileptic encephalopathy [RCV002619430]	likely benign	11	793633	793633	Human	1	name
155932109	CV1919566	single nucleotide variant	NM_001191061.2(SLC25A22):c.818+16G>A	Developmental and epileptic encephalopathy [RCV002615053]	likely benign	11	792126	792126	Human	1	name
156383913	CV2001497	single nucleotide variant	NM_001191061.2(SLC25A22):c.202+18T>C	Developmental and epileptic encephalopathy [RCV002653852]	likely benign	11	794440	794440	Human	1	name
10396857	CV202622	single nucleotide variant	NM_001191061.2(SLC25A22):c.743-15G>A	Developmental and epileptic encephalopathy [RCV002054229]\|not specified [RCV000189313]	likely benign	11	792232	792232	Human	1	name
10396853	CV202636	single nucleotide variant	NM_001191061.2(SLC25A22):c.294-14C>T	Developmental and epileptic encephalopathy [RCV002056973]\|not specified [RCV000189309]	benign\|likely benign	11	793002	793002	Human	1	name
156211123	CV2074244	single nucleotide variant	NM_001191061.2(SLC25A22):c.818+17G>C	Developmental and epileptic encephalopathy [RCV002829301]	likely benign	11	792125	792125	Human	1	name
156118282	CV2081461	single nucleotide variant	NM_001191061.2(SLC25A22):c.742+10T>G	Developmental and epileptic encephalopathy [RCV002889456]	likely benign	11	792294	792294	Human	1	name
155981410	CV2098025	single nucleotide variant	NM_001191061.2(SLC25A22):c.146+15C>T	Developmental and epileptic encephalopathy [RCV002907723]	likely benign	11	794761	794761	Human	1	name
156013819	CV2103852	single nucleotide variant	NM_001191061.2(SLC25A22):c.743-11G>T	Developmental and epileptic encephalopathy [RCV002909256]	likely benign	11	792228	792228	Human	1	name
156120516	CV2128503	single nucleotide variant	NM_001191061.2(SLC25A22):c.147-20C>A	Developmental and epileptic encephalopathy [RCV002953479]	likely benign	11	794533	794533	Human	1	name
156030940	CV2142020	single nucleotide variant	NM_001191061.2(SLC25A22):c.202+15G>A	Developmental and epileptic encephalopathy [RCV002976601]	likely benign	11	794443	794443	Human	1	name
156015006	CV2177387	single nucleotide variant	NM_001191061.2(SLC25A22):c.202+16G>A	Developmental and epileptic encephalopathy [RCV003035439]	likely benign	11	794442	794442	Human	1	name
405187927	CV2858367	single nucleotide variant	NM_001191061.2(SLC25A22):c.202+19G>A	Developmental and epileptic encephalopathy [RCV003589599]	likely benign	11	794439	794439	Human	1	name
405197008	CV2868305	single nucleotide variant	NM_001191061.2(SLC25A22):c.742+20C>G	Developmental and epileptic encephalopathy [RCV003590536]	likely benign	11	792284	792284	Human	1	name
405191075	CV2874722	single nucleotide variant	NM_001191061.2(SLC25A22):c.742+10T>C	Developmental and epileptic encephalopathy [RCV003589953]	likely benign	11	792294	792294	Human	1	name
405191468	CV2877984	single nucleotide variant	NM_001191061.2(SLC25A22):c.743-19A>G	Developmental and epileptic encephalopathy [RCV003589896]	likely benign	11	792236	792236	Human	1	name
405176283	CV2892587	single nucleotide variant	NM_001191061.2(SLC25A22):c.818+19G>A	Developmental and epileptic encephalopathy [RCV003588134]	likely benign	11	792123	792123	Human	1	name
405184000	CV2900226	single nucleotide variant	NM_001191061.2(SLC25A22):c.743-11G>A	Developmental and epileptic encephalopathy [RCV003589134]	likely benign	11	792228	792228	Human	1	name
405183342	CV2902250	single nucleotide variant	NM_001191061.2(SLC25A22):c.293+19A>G	Developmental and epileptic encephalopathy [RCV003589047]	likely benign	11	793510	793510	Human	1	name
405184316	CV2906554	single nucleotide variant	NM_001191061.2(SLC25A22):c.146+19C>T	Developmental and epileptic encephalopathy [RCV003589179]	likely benign	11	794757	794757	Human	1	name
405130603	CV2969421	single nucleotide variant	NM_001191061.2(SLC25A22):c.294-10C>G	Developmental and epileptic encephalopathy [RCV003754168]	likely benign	11	792998	792998	Human	1	name
405131177	CV2984083	deletion	NM_001191061.2(SLC25A22):c.203-11del	Developmental and epileptic encephalopathy [RCV003754230]	benign	11	793630	793630	Human	1	name
405117845	CV3022381	single nucleotide variant	NM_001191061.2(SLC25A22):c.203-19C>A	Developmental and epileptic encephalopathy [RCV003752612]	likely benign	11	793638	793638	Human	1	name
405219790	CV3161418	single nucleotide variant	NM_001191061.2(SLC25A22):c.146+10C>T	Developmental and epileptic encephalopathy [RCV003863287]	likely benign	11	794766	794766	Human	1	name
11635312	CV329528	microsatellite	NM_001191061.2(SLC25A22):c.*696TG[6]	Early Infantile Epileptic Encephalopathy, Autosomal Recessive [RCV000333535]	likely benign	11	791209	791210	Human		name
12842221	CV372482	single nucleotide variant	NM_001191061.2(SLC25A22):c.294-10C>T	Developmental and epileptic encephalopathy [RCV002061512]\|not provided [RCV000869371]	likely benign	11	792998	792998	Human	1	name
12842041	CV372742	single nucleotide variant	NM_001191061.2(SLC25A22):c.743-16C>T	Developmental and epileptic encephalopathy [RCV002061513]\|not specified [RCV000433690]	benign\|likely benign	11	792233	792233	Human	1	name
12843744	CV372743	single nucleotide variant	NM_001191061.2(SLC25A22):c.742+18C>T	not specified [RCV000436764]	likely benign	11	792286	792286	Human		name
12842587	CV372746	single nucleotide variant	NM_001191061.2(SLC25A22):c.587+19G>A	Developmental and epileptic encephalopathy [RCV002524802]\|not specified [RCV000434687]	likely benign	11	792534	792534	Human	1	name
12843867	CV372752	single nucleotide variant	NM_001191061.2(SLC25A22):c.146+20G>T	Developmental and epileptic encephalopathy [RCV002062616]\|not specified [RCV000436994]	likely benign	11	794756	794756	Human	1	name
12847540	CV372753	single nucleotide variant	NM_001191061.2(SLC25A22):c.146+20G>A	Developmental and epileptic encephalopathy [RCV001861640]\|not specified [RCV000443673]	likely benign	11	794756	794756	Human	1	name
12842947	CV374394	single nucleotide variant	NM_001191061.2(SLC25A22):c.147-17T>C	not specified [RCV000435338]	likely benign	11	794530	794530	Human		name
597939575	CV3760538	single nucleotide variant	NM_001191061.2(SLC25A22):c.587+16C>T	Developmental and epileptic encephalopathy [RCV005077265]	likely benign	11	792537	792537	Human	1	name
597932848	CV3789868	single nucleotide variant	NM_001191061.2(SLC25A22):c.147-18C>G	Developmental and epileptic encephalopathy [RCV005131947]	likely benign	11	794531	794531	Human	1	name
597964563	CV3792497	single nucleotide variant	NM_001191061.2(SLC25A22):c.743-16C>G	Developmental and epileptic encephalopathy [RCV005139864]	likely benign	11	792233	792233	Human	1	name
597902005	CV3796765	single nucleotide variant	NM_001191061.2(SLC25A22):c.743-17C>G	Developmental and epileptic encephalopathy [RCV005152848]	likely benign	11	792234	792234	Human	1	name
597957205	CV3800419	single nucleotide variant	NM_001191061.2(SLC25A22):c.412+16G>T	Developmental and epileptic encephalopathy [RCV005137511]	likely benign	11	792854	792854	Human	1	name
597942682	CV3816300	single nucleotide variant	NM_001191061.2(SLC25A22):c.412+13G>A	Developmental and epileptic encephalopathy [RCV005159361]	likely benign	11	792857	792857	Human	1	name
597837581	CV3828833	single nucleotide variant	NM_001191061.2(SLC25A22):c.147-20C>T	Developmental and epileptic encephalopathy [RCV005171526]	likely benign	11	794533	794533	Human	1	name
12901948	CV408487	duplication	NM_001191061.2(SLC25A22):c.587+26dup	not specified [RCV000485921]	likely benign	11	792526	792527	Human		name
12901431	CV408489	deletion	NM_001191061.2(SLC25A22):c.147-15del	not specified [RCV000484658]	likely benign	11	794528	794528	Human		name
13530373	CV503486	single nucleotide variant	NM_001191061.2(SLC25A22):c.587+17A>G	not specified [RCV000600675]	likely benign	11	792536	792536	Human		name
13538916	CV503808	single nucleotide variant	NM_001191061.2(SLC25A22):c.819-15G>A	Developmental and epileptic encephalopathy [RCV002066565]\|not specified [RCV000612543]	likely benign	11	792083	792083	Human	1	name
13525130	CV504058	single nucleotide variant	NM_001191061.2(SLC25A22):c.412+17G>A	Developmental and epileptic encephalopathy [RCV002066541]\|not specified [RCV000602739]	likely benign	11	792853	792853	Human	1	name
13537593	CV504066	single nucleotide variant	NM_001191061.2(SLC25A22):c.203-12C>T	Developmental and epileptic encephalopathy [RCV002066707]\|not specified [RCV000610622]	likely benign	11	793631	793631	Human	1	name
13526447	CV504480	single nucleotide variant	NM_001191061.2(SLC25A22):c.413-14C>G	not specified [RCV000604184]	likely benign	11	792741	792741	Human		name
14742699	CV665282	single nucleotide variant	NM_001191061.2(SLC25A22):c.818+15C>T	Developmental and epileptic encephalopathy [RCV002067536]\|not provided [RCV000841569]	likely benign	11	792127	792127	Human	1	name
14744041	CV665285	single nucleotide variant	NM_001191061.2(SLC25A22):c.147-11C>T	Developmental and epileptic encephalopathy [RCV002064401]\|not provided [RCV000842490]	likely benign	11	794524	794524	Human	1	name
14727868	CV666102	single nucleotide variant	NM_001191061.2(SLC25A22):c.294-80G>A	not provided [RCV000834518]	likely benign	11	793068	793068	Human		name
14727866	CV666110	single nucleotide variant	NM_001191061.2(SLC25A22):c.146+22G>A	not provided [RCV000834517]	likely benign	11	794754	794754	Human		name
14744108	CV666113	single nucleotide variant	NM_001191061.2(SLC25A22):c.146+11C>T	Developmental and epileptic encephalopathy [RCV002068626]\|not provided [RCV000842538]	likely benign	11	794765	794765	Human	1	name
15149635	CV690014	single nucleotide variant	NM_001191061.2(SLC25A22):c.147-10T>G	Developmental and epileptic encephalopathy [RCV001418758]	likely benign	11	794523	794523	Human	1	name
28911163	CV872145	single nucleotide variant	NM_001191061.2(SLC25A22):c.587+14G>A	Developmental and epileptic encephalopathy [RCV002556156]\|Early myoclonic encephalopathy [RCV001110092]	likely benign\|uncertain significance	11	792539	792539	Human	2	name
150478440	CV1218786	single nucleotide variant	NM_001191061.2(SLC25A22):c.147-128G>A	not provided [RCV001616413]	benign	11	794641	794641	Human		name
11647769	CV328244	single nucleotide variant	NM_001191061.2(SLC25A22):c.-163-15C>T	Early myoclonic encephalopathy [RCV000278083]	uncertain significance	11	795184	795184	Human	1	name
150332017	CV1169490	single nucleotide variant	NM_001191061.2(SLC25A22):c.-163-202G>T	not provided [RCV001536721]	likely benign	11	795371	795371	Human		name
150335368	CV1172308	single nucleotide variant	NM_001191061.2(SLC25A22):c.-164+383G>T	not provided [RCV001540528]	benign	11	797834	797834	Human		name
150424381	CV1184590	single nucleotide variant	NM_001191061.2(SLC25A22):c.-163-211T>A	not provided [RCV001556585]	likely benign	11	795380	795380	Human		name
150428630	CV1187805	single nucleotide variant	NM_001191061.2(SLC25A22):c.-163-833G>T	not provided [RCV001562507]	likely benign	11	796002	796002	Human		name
150407250	CV1194579	single nucleotide variant	NM_001191061.2(SLC25A22):c.-163-198A>T	not provided [RCV001572289]	likely benign	11	795367	795367	Human		name
150490934	CV1210282	deletion	NM_001191061.2(SLC25A22):c.-163-199del	not provided [RCV001592564]	likely benign	11	795368	795368	Human		name
150475907	CV1239805	single nucleotide variant	NM_001191061.2(SLC25A22):c.-164+847A>G	not provided [RCV001651982]	benign	11	797370	797370	Human		name
150468653	CV1243030	single nucleotide variant	NM_001191061.2(SLC25A22):c.-163-211T>G	not provided [RCV001650548]	benign	11	795380	795380	Human		name
150481498	CV1244112	single nucleotide variant	NM_001191061.2(SLC25A22):c.-163-722C>T	not provided [RCV001652957]	likely benign	11	795891	795891	Human		name
150459388	CV1264011	single nucleotide variant	NM_001191061.2(SLC25A22):c.-164+282G>C	not provided [RCV001681926]	benign	11	797935	797935	Human		name
150498229	CV1281873	single nucleotide variant	NM_001191061.2(SLC25A22):c.-163-837G>T	not provided [RCV001717983]	benign	11	796006	796006	Human		name
150514802	CV1285326	single nucleotide variant	NM_001191061.2(SLC25A22):c.-163-197C>T	not provided [RCV001722779]	benign	11	795366	795366	Human		name
8692865	CV142831	single nucleotide variant	NM_001191061.2(SLC25A22):c.-163-881C>T	Early myoclonic encephalopathy [RCV000392151]\|not specified [RCV000128073]	benign\|likely benign	11	796050	796050	Human	1	name
152979997	CV1678337	duplication	NM_001191061.2(SLC25A22):c.-164+135dup	not specified [RCV002246842]	benign	11	798081	798082	Human		name
10396858	CV202648	single nucleotide variant	NM_001191061.2(SLC25A22):c.-163-875C>T	not provided [RCV000189315]	uncertain significance	11	796044	796044	Human		name
10398278	CV202649	single nucleotide variant	NM_001191061.2(SLC25A22):c.-163-884C>T	not specified [RCV000189334]	likely benign\|uncertain significance	11	796053	796053	Human		name
11609108	CV315336	single nucleotide variant	NM_001191061.2(SLC25A22):c.-163-948C>T	Early myoclonic encephalopathy [RCV000363786]	uncertain significance	11	796117	796117	Human	1	name
11599852	CV315337	single nucleotide variant	NM_001191061.2(SLC25A22):c.-163-989C>T	Early myoclonic encephalopathy [RCV000269113]	uncertain significance	11	796158	796158	Human	1	name
11607907	CV322163	single nucleotide variant	NM_001191061.2(SLC25A22):c.-163-917G>C	Early myoclonic encephalopathy [RCV000348607]	uncertain significance	11	796086	796086	Human	1	name
11604416	CV322177	single nucleotide variant	NM_001191061.2(SLC25A22):c.-163-947G>A	Early myoclonic encephalopathy [RCV000308902]	uncertain significance	11	796116	796116	Human	1	name
11653697	CV328249	single nucleotide variant	NM_001191061.2(SLC25A22):c.-163-898G>A	Early myoclonic encephalopathy [RCV000312496]	uncertain significance	11	796067	796067	Human	1	name
11621750	CV329570	single nucleotide variant	NM_001191061.2(SLC25A22):c.-163-868T>C	Early myoclonic encephalopathy [RCV000351811]\|not provided [RCV001537515]	benign\|likely benign	11	796037	796037	Human	1	name
11624921	CV329572	single nucleotide variant	NM_001191061.2(SLC25A22):c.-163-934C>T	Early myoclonic encephalopathy [RCV000392143]	uncertain significance	11	796103	796103	Human	1	name
12840620	CV371755	single nucleotide variant	NM_001191061.2(SLC25A22):c.-163-878T>C	not specified [RCV000431060]	likely benign	11	796047	796047	Human		name
14716438	CV666116	deletion	NM_001191061.2(SLC25A22):c.-163-206del	not provided [RCV000829729]	benign	11	795375	795375	Human		name
14715020	CV666119	deletion	NM_001191061.2(SLC25A22):c.-163-211del	not provided [RCV000829240]	likely benign	11	795380	795380	Human		name
14720924	CV666304	single nucleotide variant	NM_001191061.2(SLC25A22):c.-163-206A>G	not provided [RCV000831446]	likely benign	11	795375	795375	Human		name
28911649	CV868865	single nucleotide variant	NM_001191061.2(SLC25A22):c.-163-874G>A	Early myoclonic encephalopathy [RCV001110927]	uncertain significance	11	796043	796043	Human	1	name
28911650	CV868866	single nucleotide variant	NM_001191061.2(SLC25A22):c.-163-901C>T	Early myoclonic encephalopathy [RCV001110928]	uncertain significance	11	796070	796070	Human	1	name
28911651	CV868867	single nucleotide variant	NM_001191061.2(SLC25A22):c.-163-945G>C	Early myoclonic encephalopathy [RCV001110929]	uncertain significance	11	796114	796114	Human	1	name
151841253	CV1463081	deletion	NM_001191061.2(SLC25A22):c.568_587+6del	Developmental and epileptic encephalopathy [RCV002031845]	likely pathogenic	11	792547	792572	Human	1	name
11635299	CV322157	microsatellite	NM_001191061.2(SLC25A22):c.-72TCCACC[4]	Early Infantile Epileptic Encephalopathy, Autosomal Recessive [RCV000327023]\|not provided [RCV001541456]	likely benign\|uncertain significance	11	795060	795061	Human		name
11659692	CV322178	single nucleotide variant	NM_001191061.2(SLC25A22):c.-163-1027C>G	Early myoclonic encephalopathy [RCV000360317]	uncertain significance	11	796196	796196	Human	1	name
11620325	CV329503	microsatellite	NM_001191061.2(SLC25A22):c.*1418AATA[2]	Early Infantile Epileptic Encephalopathy, Autosomal Recessive [RCV000335350]	uncertain significance	11	790486	790489	Human		name
11617565	CV329577	single nucleotide variant	NM_001191061.2(SLC25A22):c.-163-1026C>T	Early myoclonic encephalopathy [RCV000305621]	uncertain significance	11	796195	796195	Human	1	name
28869082	CV868868	single nucleotide variant	NM_001191061.2(SLC25A22):c.-163-1053T>G	Early myoclonic encephalopathy [RCV001112926]	uncertain significance	11	796222	796222	Human	1	name
11661443	CV322158	insertion	NM_001191061.2(SLC25A22):c.-138_-137insC	Early Infantile Epileptic Encephalopathy, Autosomal Recessive [RCV000376339]	uncertain significance	11	795143	795144	Human	1	name
10398273	CV202640	microsatellite	NM_001191061.2(SLC25A22):c.146+2_146+3del	not provided [RCV000189322]	pathogenic	11	794773	794774	Human		name
155974365	CV2088697	microsatellite	NM_001191061.2(SLC25A22):c.819-7_819-5del	Developmental and epileptic encephalopathy [RCV002863465]	likely benign	11	792073	792075	Human		name
152059811	CV1627845	single nucleotide variant	NM_001191061.2(SLC25A22):c.22C>T (p.Leu8=)	Developmental and epileptic encephalopathy [RCV002190389]	likely benign	11	794900	794900	Human	1	name
156004175	CV1988037	single nucleotide variant	NM_001191061.2(SLC25A22):c.12G>A (p.Lys4=)	Developmental and epileptic encephalopathy [RCV002618586]	likely benign	11	794995	794995	Human	1	name
12840332	CV371749	single nucleotide variant	NM_001191061.2(SLC25A22):c.15G>A (p.Gln5=)	Developmental and epileptic encephalopathy [RCV001462273]\|not specified [RCV000430491]	likely benign	11	794992	794992	Human	1	name
597931243	CV3789445	deletion	NM_001191061.2(SLC25A22):c.4del (p.Ala2fs)	Developmental and epileptic encephalopathy [RCV005131726]	pathogenic	11	795003	795003	Human	1	name
127281633	CV1078945	single nucleotide variant	NM_001191061.2(SLC25A22):c.63C>T (p.Ile21=)	Developmental and epileptic encephalopathy [RCV001410610]\|Inborn genetic diseases [RCV002368284]	likely benign	11	794859	794859	Human	2	name
127254979	CV1078946	single nucleotide variant	NM_001191061.2(SLC25A22):c.36C>A (p.Leu12=)	Developmental and epileptic encephalopathy [RCV001418657]	likely benign	11	794886	794886	Human	1	name
127304678	CV1122122	single nucleotide variant	NM_001191061.2(SLC25A22):c.36C>T (p.Leu12=)	Developmental and epileptic encephalopathy [RCV001462319]	likely benign	11	794886	794886	Human	1	name
152068284	CV1547714	deletion	NM_001191061.2(SLC25A22):c.147-18_147-17del	Developmental and epileptic encephalopathy [RCV002074746]	likely benign	11	794530	794531	Human	1	name
152031762	CV1571889	deletion	NM_001191061.2(SLC25A22):c.587+11_587+17del	Developmental and epileptic encephalopathy [RCV002186765]	likely benign	11	792536	792542	Human	1	name
10396851	CV202645	single nucleotide variant	NM_001191061.2(SLC25A22):c.75C>T (p.Cys25=)	Developmental and epileptic encephalopathy [RCV000474883]\|Inborn genetic diseases [RCV002390498]\|not specified [RCV000189307]	benign\|likely benign\|uncertain significance	11	794847	794847	Human	2	name
156016296	CV2114448	deletion	NM_001191061.2(SLC25A22):c.588-16_588-14del	Developmental and epileptic encephalopathy [RCV002909382]	likely benign	11	792472	792474	Human	1	name
405129832	CV2964933	single nucleotide variant	NM_001191061.2(SLC25A22):c.99G>A (p.Lys33=)	Developmental and epileptic encephalopathy [RCV003754089]	likely benign	11	794823	794823	Human	1	name
12838919	CV372484	single nucleotide variant	NM_001191061.2(SLC25A22):c.54C>T (p.Ala18=)	Developmental and epileptic encephalopathy [RCV002064958]\|Inborn genetic diseases [RCV002348173]\|not specified [RCV000427859]	likely benign	11	794868	794868	Human	2	name
12835394	CV372485	single nucleotide variant	NM_001191061.2(SLC25A22):c.51C>T (p.Ile17=)	Developmental and epileptic encephalopathy [RCV000636482]\|not provided [RCV001718874]	likely benign	11	794871	794871	Human	1	name
12838245	CV372768	single nucleotide variant	NM_001191061.2(SLC25A22):c.87C>T (p.Ile29=)	Developmental and epileptic encephalopathy [RCV002063636]\|not specified [RCV000426618]	likely benign	11	794835	794835	Human	1	name
13525750	CV503810	single nucleotide variant	NM_001191061.2(SLC25A22):c.45C>T (p.Gly15=)	Developmental and epileptic encephalopathy [RCV001466345]\|not provided [RCV001718923]	likely benign	11	794877	794877	Human	1	name
127253400	CV1078943	single nucleotide variant	NM_001191061.2(SLC25A22):c.135G>C (p.Val45=)	Developmental and epileptic encephalopathy [RCV001400531]	likely benign	11	794787	794787	Human	1	name
127277191	CV1078944	single nucleotide variant	NM_001191061.2(SLC25A22):c.105G>A (p.Arg35=)	Developmental and epileptic encephalopathy [RCV001407618]	likely benign	11	794817	794817	Human	1	name
127247829	CV1100665	single nucleotide variant	NM_001191061.2(SLC25A22):c.225C>T (p.Leu75=)	Developmental and epileptic encephalopathy [RCV001435698]	likely benign	11	793597	793597	Human	1	name
127240893	CV1100666	single nucleotide variant	NM_001191061.2(SLC25A22):c.114C>T (p.Asn38=)	Developmental and epileptic encephalopathy [RCV001434314]	likely benign	11	794808	794808	Human	1	name
127313847	CV1142998	single nucleotide variant	NM_001191061.2(SLC25A22):c.231C>T (p.Thr77=)	Developmental and epileptic encephalopathy [RCV001482086]	likely benign	11	793591	793591	Human	1	name
151858877	CV1377696	single nucleotide variant	NM_001191061.2(SLC25A22):c.16A>G (p.Ile6Val)	Developmental and epileptic encephalopathy [RCV001938290]\|Inborn genetic diseases [RCV002407078]	uncertain significance	11	794991	794991	Human	2	name
8692867	CV142833	single nucleotide variant	NM_001191061.2(SLC25A22):c.132C>T (p.Arg44=)	Developmental and epileptic encephalopathy [RCV001083324]\|Early myoclonic encephalopathy [RCV000366300]\|Inborn genetic diseases [RCV002316410]\|SLC25A22-related disorder [RCV003915273]\|not provided [RCV000725655]\|not specified [RCV000128075]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	794790	794790	Human	4	name , trait , alternate_id
152167251	CV1524611	single nucleotide variant	NM_001191061.2(SLC25A22):c.222C>T (p.Thr74=)	Developmental and epileptic encephalopathy [RCV002142114]	likely benign	11	793600	793600	Human	1	name
152107517	CV1579446	single nucleotide variant	NM_001191061.2(SLC25A22):c.129G>A (p.Gln43=)	Developmental and epileptic encephalopathy [RCV002173908]	likely benign	11	794793	794793	Human	1	name
152140237	CV1628741	single nucleotide variant	NM_001191061.2(SLC25A22):c.123C>T (p.Asn41=)	Developmental and epileptic encephalopathy [RCV002100673]	likely benign	11	794799	794799	Human	1	name
152033007	CV1637863	single nucleotide variant	NM_001191061.2(SLC25A22):c.210T>G (p.Ala70=)	Developmental and epileptic encephalopathy [RCV002144932]\|not provided [RCV002224146]	likely benign\|uncertain significance	11	793612	793612	Human	1	name
9683820	CV168888	single nucleotide variant	NM_001191061.2(SLC25A22):c.234C>T (p.Pro78=)	Developmental and epileptic encephalopathy [RCV001517830]\|Early myoclonic encephalopathy [RCV000275153]\|Inborn genetic diseases [RCV002312658]\|not provided [RCV000713310]\|not specified [RCV000147506]	benign\|likely benign	11	793588	793588	Human	3	name
155733461	CV1842624	single nucleotide variant	NM_001191061.2(SLC25A22):c.189C>T (p.Phe63=)	Developmental and epileptic encephalopathy [RCV005097821]\|Inborn genetic diseases [RCV002408195]	likely benign	11	794471	794471	Human	2	name
155979910	CV1882975	single nucleotide variant	NM_001191061.2(SLC25A22):c.291C>T (p.Asp97=)	Developmental and epileptic encephalopathy [RCV003075600]	likely benign	11	793531	793531	Human	1	name
10398276	CV202621	single nucleotide variant	NM_024698.5(SLC25A22):c.775G>A (p.Gly259Ser)	not specified [RCV000189331]	uncertain significance	11	792185	792185	Human		name
155965349	CV2048758	single nucleotide variant	NM_001191061.2(SLC25A22):c.168C>T (p.Thr56=)	Developmental and epileptic encephalopathy [RCV002776462]	likely benign	11	794492	794492	Human	1	name
155969073	CV2077093	single nucleotide variant	NM_001191061.2(SLC25A22):c.258C>G (p.Ala86=)	Developmental and epileptic encephalopathy [RCV002863226]	likely benign	11	793564	793564	Human	1	name
156099908	CV2107245	single nucleotide variant	NM_001191061.2(SLC25A22):c.258C>T (p.Ala86=)	Developmental and epileptic encephalopathy [RCV002927011]	likely benign	11	793564	793564	Human	1	name
405124261	CV2948457	single nucleotide variant	NM_001191061.2(SLC25A22):c.234C>G (p.Pro78=)	Developmental and epileptic encephalopathy [RCV003753433]	likely benign	11	793588	793588	Human	1	name
405124999	CV2950621	single nucleotide variant	NM_001191061.2(SLC25A22):c.117G>A (p.Gln39=)	Developmental and epileptic encephalopathy [RCV003753540]	likely benign	11	794805	794805	Human	1	name
405130199	CV2972521	single nucleotide variant	NM_001191061.2(SLC25A22):c.159C>T (p.Leu53=)	Developmental and epileptic encephalopathy [RCV003754127]	likely benign	11	794501	794501	Human	1	name
405129397	CV2974315	single nucleotide variant	NM_001191061.2(SLC25A22):c.198C>T (p.Tyr66=)	Developmental and epileptic encephalopathy [RCV003754045]	likely benign	11	794462	794462	Human	1	name
405133498	CV2991534	single nucleotide variant	NM_001191061.2(SLC25A22):c.111G>A (p.Gln37=)	Developmental and epileptic encephalopathy [RCV003754468]	likely benign	11	794811	794811	Human	1	name
11619839	CV328235	single nucleotide variant	NM_001191061.2(SLC25A22):c.150C>T (p.Ser50=)	Developmental and epileptic encephalopathy [RCV000870560]\|Early myoclonic encephalopathy [RCV000330244]\|Inborn genetic diseases [RCV002317828]\|not provided [RCV001697712]	likely benign\|uncertain significance	11	794510	794510	Human	3	name
12847455	CV374393	single nucleotide variant	NM_001191061.2(SLC25A22):c.177C>T (p.Ser59=)	Developmental and epileptic encephalopathy [RCV000560594]\|not specified [RCV000443512]	likely benign	11	794483	794483	Human	1	name
598126082	CV3881767	single nucleotide variant	NM_001191061.2(SLC25A22):c.26C>T (p.Pro9Leu)	not provided [RCV005233318]	uncertain significance	11	794896	794896	Human		name
13537154	CV503487	single nucleotide variant	NM_001191061.2(SLC25A22):c.207T>G (p.Ala69=)	Developmental and epileptic encephalopathy [RCV001497885]\|Inborn genetic diseases [RCV002420650]\|not provided [RCV001719113]	likely benign	11	793615	793615	Human	2	name
13526196	CV503492	single nucleotide variant	NM_001191061.2(SLC25A22):c.141G>C (p.Thr47=)	Developmental and epileptic encephalopathy [RCV000876212]\|Inborn genetic diseases [RCV002317373]\|not provided [RCV001719112]	likely benign	11	794781	794781	Human	2	name
14394393	CV609815	single nucleotide variant	NM_001191061.2(SLC25A22):c.141G>A (p.Thr47=)	Developmental and epileptic encephalopathy [RCV001500108]\|not provided [RCV000757771]	likely benign	11	794781	794781	Human	1	name
14395990	CV611758	single nucleotide variant	NM_001191061.2(SLC25A22):c.13C>T (p.Gln5Ter)	not provided [RCV000760712]	likely pathogenic	11	794994	794994	Human		name
15167345	CV752998	single nucleotide variant	NM_001191061.2(SLC25A22):c.165G>A (p.Lys55=)	Developmental and epileptic encephalopathy [RCV001422494]	likely benign	11	794495	794495	Human	1	name
126758978	CV1010014	single nucleotide variant	NM_001191061.2(SLC25A22):c.88G>A (p.Asp30Asn)	Developmental and epileptic encephalopathy [RCV001317934]\|Developmental and epileptic encephalopathy, 3 [RCV005253795]	uncertain significance	11	794834	794834	Human	2	name
126769107	CV1010015	single nucleotide variant	NM_001191061.2(SLC25A22):c.76G>A (p.Val26Met)	Developmental and epileptic encephalopathy [RCV001321755]	uncertain significance	11	794846	794846	Human	1	name
126919278	CV1047562	single nucleotide variant	NM_001191061.2(SLC25A22):c.507G>A (p.Thr169=)	Developmental and epileptic encephalopathy [RCV001362202]	uncertain significance	11	792633	792633	Human	1	name
127283721	CV1100664	single nucleotide variant	NM_001191061.2(SLC25A22):c.669G>A (p.Ser223=)	Developmental and epileptic encephalopathy [RCV001448697]	likely benign	11	792377	792377	Human	1	name
127336480	CV1122118	single nucleotide variant	NM_001191061.2(SLC25A22):c.922C>T (p.Leu308=)	Developmental and epileptic encephalopathy [RCV001474968]\|not provided [RCV005256806]	likely benign	11	791965	791965	Human	1	name
127318524	CV1122119	single nucleotide variant	NM_001191061.2(SLC25A22):c.849C>T (p.Ala283=)	Developmental and epileptic encephalopathy [RCV001466239]\|not provided [RCV004809623]	likely benign	11	792038	792038	Human	1	name
127306350	CV1122120	single nucleotide variant	NM_001191061.2(SLC25A22):c.627C>T (p.Ala209=)	Developmental and epileptic encephalopathy [RCV001462761]	likely benign	11	792419	792419	Human	1	name
127333984	CV1142993	single nucleotide variant	NM_001191061.2(SLC25A22):c.853C>T (p.Leu285=)	Developmental and epileptic encephalopathy [RCV001490528]	likely benign	11	792034	792034	Human	1	name
127292896	CV1142995	single nucleotide variant	NM_001191061.2(SLC25A22):c.657C>T (p.Ser219=)	Developmental and epileptic encephalopathy [RCV001496592]\|Inborn genetic diseases [RCV002377863]\|not provided [RCV002511091]	likely benign	11	792389	792389	Human	2	name
127305588	CV1142997	single nucleotide variant	NM_001191061.2(SLC25A22):c.369C>T (p.Pro123=)	Developmental and epileptic encephalopathy [RCV001479797]	likely benign	11	792913	792913	Human	1	name
150410557	CV1177516	single nucleotide variant	NM_001191061.2(SLC25A22):c.525C>T (p.Arg175=)	Developmental and epileptic encephalopathy [RCV002072002]\|not provided [RCV001546705]	likely benign	11	792615	792615	Human	1	name
150507507	CV1244583	single nucleotide variant	NM_001191061.2(SLC25A22):c.55G>A (p.Gly19Arg)	not provided [RCV001658832]	uncertain significance	11	794867	794867	Human		name
151861389	CV1369327	single nucleotide variant	NM_001191061.2(SLC25A22):c.67G>A (p.Val23Ile)	Developmental and epileptic encephalopathy [RCV002034401]	uncertain significance	11	794855	794855	Human	1	name
151747378	CV1398611	single nucleotide variant	NM_001191061.2(SLC25A22):c.83C>T (p.Pro28Leu)	Developmental and epileptic encephalopathy [RCV002042887]	uncertain significance	11	794839	794839	Human	1	name
8692871	CV142837	single nucleotide variant	NM_001191061.2(SLC25A22):c.327G>A (p.Ala109=)	Developmental and epileptic encephalopathy [RCV001085403]\|Inborn genetic diseases [RCV002312935]\|not provided [RCV000725933]\|not specified [RCV000128079]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	792955	792955	Human	2	name
8692875	CV142841	single nucleotide variant	NM_001191061.2(SLC25A22):c.495C>T (p.Ala165=)	Developmental and epileptic encephalopathy [RCV001083301]\|Early myoclonic encephalopathy [RCV001110855]\|Inborn genetic diseases [RCV002316412]\|not provided [RCV000713312]\|not specified [RCV000128083]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	792645	792645	Human	3	name
8692876	CV142842	single nucleotide variant	NM_001191061.2(SLC25A22):c.570C>T (p.Leu190=)	Developmental and epileptic encephalopathy [RCV001083398]\|Developmental and epileptic encephalopathy, 3 [RCV001803010]\|Early myoclonic encephalopathy [RCV000287522]\|Inborn genetic diseases [RCV002312936]\|SLC25A22-related disorder [RCV003925269]\|not provided [RCV ... (more) 000713313]\|not specified [RCV000186659]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	792570	792570	Human	4	name , trait , alternate_id
8692877	CV142843	single nucleotide variant	NM_001191061.2(SLC25A22):c.585C>T (p.Leu195=)	Developmental and epileptic encephalopathy [RCV001086464]\|Early myoclonic encephalopathy [RCV000381855]\|Inborn genetic diseases [RCV002354321]\|SLC25A22-related disorder [RCV003915275]\|not provided [RCV000713314]\|not specified [RCV000186660]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	792555	792555	Human	4	name , trait , alternate_id
8692878	CV142844	single nucleotide variant	NM_001191061.2(SLC25A22):c.618G>A (p.Pro206=)	Developmental and epileptic encephalopathy [RCV000460078]\|Early myoclonic encephalopathy [RCV000327298]\|Inborn genetic diseases [RCV002312937]\|not provided [RCV004718025]\|not specified [RCV000147513]	benign\|likely benign\|conflicting interpretations of pathogenicity	11	792428	792428	Human	3	name
8692879	CV142845	single nucleotide variant	NM_001191061.2(SLC25A22):c.705T>C (p.Ala235=)	Developmental and epileptic encephalopathy [RCV000524567]\|Early myoclonic encephalopathy [RCV000275923]\|Inborn genetic diseases [RCV002312938]\|not provided [RCV001701524]\|not specified [RCV000128087]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	792341	792341	Human	3	name
8692882	CV142848	single nucleotide variant	NM_001191061.2(SLC25A22):c.876G>A (p.Ala292=)	Developmental and epileptic encephalopathy [RCV001084573]\|Developmental and epileptic encephalopathy, 3 [RCV003224164]\|Early myoclonic encephalopathy [RCV000301063]\|Inborn genetic diseases [RCV002316413]\|SLC25A22-related disorder [RCV003952677]\|not provided [RCV ... (more) 000725476]\|not specified [RCV000147514]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	792011	792011	Human	4	name , trait , alternate_id
8692883	CV142849	single nucleotide variant	NM_001191061.2(SLC25A22):c.933G>A (p.Ala311=)	Developmental and epileptic encephalopathy [RCV000636521]\|not specified [RCV000128091]	benign\|likely benign	11	791954	791954	Human	1	name
152155641	CV1520341	single nucleotide variant	NM_001191061.2(SLC25A22):c.570C>G (p.Leu190=)	Developmental and epileptic encephalopathy [RCV002140127]	likely benign	11	792570	792570	Human	1	name
152059514	CV1532748	single nucleotide variant	NM_001191061.2(SLC25A22):c.882C>T (p.Val294=)	Developmental and epileptic encephalopathy [RCV002208483]	likely benign	11	792005	792005	Human	1	name
152139459	CV1555084	single nucleotide variant	NM_001191061.2(SLC25A22):c.477A>G (p.Ser159=)	Developmental and epileptic encephalopathy [RCV002200388]	likely benign	11	792663	792663	Human	1	name
152154720	CV1560838	single nucleotide variant	NM_001191061.2(SLC25A22):c.529C>T (p.Leu177=)	Developmental and epileptic encephalopathy [RCV002102770]	likely benign	11	792611	792611	Human	1	name
152061978	CV1563665	single nucleotide variant	NM_001191061.2(SLC25A22):c.532C>T (p.Leu178=)	Developmental and epileptic encephalopathy [RCV002208797]	likely benign	11	792608	792608	Human	1	name
152174960	CV1572806	single nucleotide variant	NM_001191061.2(SLC25A22):c.792C>T (p.Thr264=)	Developmental and epileptic encephalopathy [RCV002144617]	likely benign	11	792168	792168	Human	1	name
152170603	CV1578269	single nucleotide variant	NM_001191061.2(SLC25A22):c.591T>C (p.Asp197=)	Developmental and epileptic encephalopathy [RCV002183211]	likely benign	11	792455	792455	Human	1	name
152052416	CV1587327	single nucleotide variant	NM_001191061.2(SLC25A22):c.558C>T (p.Leu186=)	Developmental and epileptic encephalopathy [RCV002145847]	likely benign	11	792582	792582	Human	1	name
152170613	CV1592506	single nucleotide variant	NM_001191061.2(SLC25A22):c.940C>T (p.Leu314=)	Developmental and epileptic encephalopathy [RCV002161831]	likely benign	11	791947	791947	Human	1	name
152150728	CV1605344	single nucleotide variant	NM_001191061.2(SLC25A22):c.864C>T (p.Ala288=)	Developmental and epileptic encephalopathy [RCV002102187]	likely benign	11	792023	792023	Human	1	name
152132432	CV1621383	single nucleotide variant	NM_001191061.2(SLC25A22):c.753G>A (p.Thr251=)	Developmental and epileptic encephalopathy [RCV002218254]	likely benign	11	792207	792207	Human	1	name
152097198	CV1628029	single nucleotide variant	NM_001191061.2(SLC25A22):c.517C>T (p.Leu173=)	Developmental and epileptic encephalopathy [RCV002195078]	likely benign	11	792623	792623	Human	1	name
152125112	CV1640534	single nucleotide variant	NM_001191061.2(SLC25A22):c.829C>A (p.Arg277=)	Developmental and epileptic encephalopathy [RCV002176080]	likely benign	11	792058	792058	Human	1	name
9683825	CV168883	single nucleotide variant	NM_001191061.2(SLC25A22):c.897C>T (p.Phe299=)	Developmental and epileptic encephalopathy [RCV000863215]\|Early myoclonic encephalopathy [RCV000147515]\|SLC25A22-related disorder [RCV003905273]\|not provided [RCV001527880]	benign\|likely benign\|uncertain significance	11	791990	791990	Human	3	name , trait , alternate_id
9683824	CV168884	single nucleotide variant	NM_001191061.2(SLC25A22):c.561C>T (p.Tyr187=)	Developmental and epileptic encephalopathy [RCV000469558]\|Early myoclonic encephalopathy [RCV000342517]\|Inborn genetic diseases [RCV002312659]\|not provided [RCV001539020]\|not specified [RCV000147512]	benign\|likely benign	11	792579	792579	Human	3	name
9683823	CV168885	single nucleotide variant	NM_001191061.2(SLC25A22):c.474C>T (p.Pro158=)	Developmental and epileptic encephalopathy [RCV002055931]\|Early myoclonic encephalopathy [RCV000147511]	likely benign\|uncertain significance	11	792666	792666	Human	2	name
155689263	CV1803965	single nucleotide variant	NM_001191061.2(SLC25A22):c.597C>G (p.Pro199=)	Inborn genetic diseases [RCV002356119]	likely benign	11	792449	792449	Human	1	name
155710758	CV1805851	single nucleotide variant	NM_001191061.2(SLC25A22):c.504C>T (p.Pro168=)	Inborn genetic diseases [RCV002335713]	likely benign	11	792636	792636	Human	1	name
155712967	CV1818055	single nucleotide variant	NM_001191061.2(SLC25A22):c.918C>T (p.Tyr306=)	Inborn genetic diseases [RCV002378915]	likely benign	11	791969	791969	Human	1	name
156372670	CV1878496	single nucleotide variant	NM_001191061.2(SLC25A22):c.927C>T (p.Gly309=)	Developmental and epileptic encephalopathy [RCV003066432]	likely benign	11	791960	791960	Human	1	name
156328492	CV1887509	single nucleotide variant	NM_001191061.2(SLC25A22):c.798T>C (p.Ser266=)	Developmental and epileptic encephalopathy [RCV003089643]	likely benign	11	792162	792162	Human	1	name
156399487	CV1892649	single nucleotide variant	NM_001191061.2(SLC25A22):c.444C>T (p.Gly148=)	Developmental and epileptic encephalopathy [RCV003068991]	likely benign	11	792696	792696	Human	1	name
156352660	CV1893362	single nucleotide variant	NM_001191061.2(SLC25A22):c.501G>A (p.Arg167=)	Developmental and epileptic encephalopathy [RCV003091101]	likely benign	11	792639	792639	Human	1	name
156269272	CV1899298	single nucleotide variant	NM_001191061.2(SLC25A22):c.810C>T (p.Asp270=)	Developmental and epileptic encephalopathy [RCV003086721]	likely benign	11	792150	792150	Human	1	name
156361855	CV1904988	single nucleotide variant	NM_001191061.2(SLC25A22):c.40A>G (p.Asn14Asp)	Developmental and epileptic encephalopathy [RCV002602554]	uncertain significance	11	794882	794882	Human	1	name
10049761	CV190905	single nucleotide variant	NM_001191061.2(SLC25A22):c.834C>T (p.His278=)	Developmental and epileptic encephalopathy [RCV001446505]\|Inborn genetic diseases [RCV002316998]\|not provided [RCV000173900]	likely benign\|uncertain significance	11	792053	792053	Human	2	name
156445866	CV1952113	single nucleotide variant	NM_001191061.2(SLC25A22):c.936G>A (p.Glu312=)	Developmental and epileptic encephalopathy [RCV003116828]	likely benign	11	791951	791951	Human	1	name
10053079	CV195753	single nucleotide variant	NM_001191061.2(SLC25A22):c.579G>A (p.Thr193=)	Developmental and epileptic encephalopathy [RCV001088546]\|Inborn genetic diseases [RCV002354465]\|SLC25A22-related disorder [RCV003947534]\|not provided [RCV000724298]\|not specified [RCV000179976]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	792561	792561	Human	3	name , trait , alternate_id
10396854	CV202633	single nucleotide variant	NM_001191061.2(SLC25A22):c.414C>T (p.Ala138=)	Developmental and epileptic encephalopathy [RCV001088046]\|Inborn genetic diseases [RCV002327018]\|not provided [RCV000726714]\|not specified [RCV000189310]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	792726	792726	Human	2	name
10396860	CV202646	single nucleotide variant	NM_001191061.2(SLC25A22):c.64G>A (p.Gly22Ser)	Developmental and epileptic encephalopathy [RCV001246769]\|Inborn genetic diseases [RCV004955320]\|not provided [RCV000189317]	uncertain significance	11	794858	794858	Human	2	name
155967766	CV2034414	single nucleotide variant	NM_001191061.2(SLC25A22):c.52G>A (p.Ala18Thr)	Developmental and epileptic encephalopathy [RCV002731476]\|Developmental and epileptic encephalopathy, 3 [RCV005254130]	uncertain significance	11	794870	794870	Human	2	name
155954654	CV2069702	single nucleotide variant	NM_001191061.2(SLC25A22):c.456C>T (p.Ala152=)	Developmental and epileptic encephalopathy [RCV002816452]	likely benign	11	792684	792684	Human	1	name
10404580	CV207915	single nucleotide variant	NM_001191061.2(SLC25A22):c.885C>T (p.Ile295=)	Developmental and epileptic encephalopathy [RCV000544995]\|Inborn genetic diseases [RCV002315502]\|not provided [RCV001721261]\|not specified [RCV000193676]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	792002	792002	Human	2	name
156136388	CV2165693	single nucleotide variant	NM_001191061.2(SLC25A22):c.513C>T (p.Thr171=)	Developmental and epileptic encephalopathy [RCV003022367]	likely benign	11	792627	792627	Human	1	name
156374319	CV2190824	single nucleotide variant	NM_001191061.2(SLC25A22):c.29C>T (p.Ala10Val)	Developmental and epileptic encephalopathy [RCV003049969]	uncertain significance	11	794893	794893	Human	1	name
11637154	CV269133	single nucleotide variant	NM_001191061.2(SLC25A22):c.726C>T (p.Ala242=)	Developmental and epileptic encephalopathy [RCV002518952]\|Early myoclonic encephalopathy [RCV001114124]\|not provided [RCV000725550]\|not specified [RCV000281120]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	792320	792320	Human	2	name
11640218	CV271635	single nucleotide variant	NM_001191061.2(SLC25A22):c.379C>T (p.Leu127=)	Developmental and epileptic encephalopathy [RCV002059220]\|not provided [RCV000726004]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	792903	792903	Human	1	name
401855723	CV2753165	single nucleotide variant	NM_001191061.2(SLC25A22):c.94G>C (p.Ala32Pro)	Developmental and epileptic encephalopathy, 3 [RCV003338221]	uncertain significance	11	794828	794828	Human	1	name
401907805	CV2806406	single nucleotide variant	NM_001191061.2(SLC25A22):c.732C>T (p.Asn244=)	Developmental and epileptic encephalopathy [RCV003753287]\|not provided [RCV003422919]	likely benign	11	792314	792314	Human	1	name
405187141	CV2854431	single nucleotide variant	NM_001191061.2(SLC25A22):c.462G>C (p.Gly154=)	Developmental and epileptic encephalopathy [RCV003589510]	likely benign	11	792678	792678	Human	1	name
405188507	CV2859080	deletion	NM_001191061.2(SLC25A22):c.8_12del (p.Asp3fs)	Developmental and epileptic encephalopathy [RCV003589665]	pathogenic	11	794995	794999	Human	1	name
405196904	CV2872909	single nucleotide variant	NM_001191061.2(SLC25A22):c.714C>G (p.Ala238=)	Developmental and epileptic encephalopathy [RCV003590671]	likely benign	11	792332	792332	Human	1	name
405192441	CV2914350	single nucleotide variant	NM_001191061.2(SLC25A22):c.504C>G (p.Pro168=)	Developmental and epileptic encephalopathy [RCV003590113]	likely benign	11	792636	792636	Human	1	name
405124219	CV2938516	single nucleotide variant	NM_001191061.2(SLC25A22):c.687C>T (p.Phe229=)	Developmental and epileptic encephalopathy [RCV003753428]	likely benign	11	792359	792359	Human	1	name
405125162	CV2951280	single nucleotide variant	NM_001191061.2(SLC25A22):c.762G>A (p.Gln254=)	Developmental and epileptic encephalopathy [RCV003753558]	likely benign	11	792198	792198	Human	1	name
405128734	CV2959135	single nucleotide variant	NM_001191061.2(SLC25A22):c.939C>T (p.Ser313=)	Developmental and epileptic encephalopathy [RCV003753945]	likely benign	11	791948	791948	Human	1	name
405129864	CV2974964	single nucleotide variant	NM_001191061.2(SLC25A22):c.552C>T (p.Ala184=)	Developmental and epileptic encephalopathy [RCV003754092]	likely benign	11	792588	792588	Human	1	name
405131705	CV2981419	single nucleotide variant	NM_001191061.2(SLC25A22):c.891C>A (p.Pro297=)	Developmental and epileptic encephalopathy [RCV003754286]	likely benign	11	791996	791996	Human	1	name
405136169	CV3013299	single nucleotide variant	NM_001191061.2(SLC25A22):c.387C>T (p.Ile129=)	Developmental and epileptic encephalopathy [RCV003754728]	likely benign	11	792895	792895	Human	1	name
405121706	CV3067124	single nucleotide variant	NM_001191061.2(SLC25A22):c.366G>A (p.Thr122=)	Developmental and epileptic encephalopathy [RCV003753067]	likely benign	11	792916	792916	Human	1	name
405127899	CV3077297	single nucleotide variant	NM_001191061.2(SLC25A22):c.891C>G (p.Pro297=)	Developmental and epileptic encephalopathy [RCV003753850]	likely benign	11	791996	791996	Human	1	name
11608512	CV315310	single nucleotide variant	NM_001191061.2(SLC25A22):c.861C>T (p.Gly287=)	Developmental and epileptic encephalopathy [RCV001068372]\|Early Infantile Epileptic Encephalopathy, Autosomal Recessive [RCV000355905]	likely benign\|uncertain significance	11	792026	792026	Human	2	name
11602502	CV315312	single nucleotide variant	NM_001191061.2(SLC25A22):c.651G>A (p.Pro217=)	Developmental and epileptic encephalopathy [RCV001392119]\|Early myoclonic encephalopathy [RCV000291195]\|not specified [RCV000426506]	likely benign\|uncertain significance	11	792395	792395	Human	2	name
11662394	CV322149	single nucleotide variant	NM_001191061.2(SLC25A22):c.666G>A (p.Lys222=)	Early myoclonic encephalopathy [RCV000385453]\|not provided [RCV003422253]	likely benign\|uncertain significance	11	792380	792380	Human	1	name
11646613	CV322156	single nucleotide variant	NM_001191061.2(SLC25A22):c.53C>T (p.Ala18Val)	Early myoclonic encephalopathy [RCV000272002]	uncertain significance	11	794869	794869	Human	1	name
11623271	CV328218	single nucleotide variant	NM_001191061.2(SLC25A22):c.717C>T (p.Ala239=)	Developmental and epileptic encephalopathy [RCV001405885]\|Early myoclonic encephalopathy [RCV000370542]\|Inborn genetic diseases [RCV002374523]\|not provided [RCV001568771]	likely benign\|uncertain significance	11	792329	792329	Human	3	name
11619942	CV328219	single nucleotide variant	NM_001191061.2(SLC25A22):c.678C>T (p.Tyr226=)	Developmental and epileptic encephalopathy [RCV000863699]\|Early myoclonic encephalopathy [RCV000331052]\|Inborn genetic diseases [RCV002365354]\|not provided [RCV001718623]	likely benign\|uncertain significance	11	792368	792368	Human	3	name
11618599	CV328230	single nucleotide variant	NM_001191061.2(SLC25A22):c.327G>C (p.Ala109=)	Developmental and epileptic encephalopathy [RCV001413968]\|Early myoclonic encephalopathy [RCV000315519]\|not provided [RCV003422254]	likely benign\|uncertain significance	11	792955	792955	Human	2	name
407509265	CV3473971	single nucleotide variant	NM_001191061.2(SLC25A22):c.61A>G (p.Ile21Val)	Inborn genetic diseases [RCV004672309]	uncertain significance	11	794861	794861	Human	1	name
12846842	CV371743	single nucleotide variant	NM_001191061.2(SLC25A22):c.900C>T (p.Gly300=)	Developmental and epileptic encephalopathy [RCV000696674]\|not specified [RCV000442418]	likely benign\|uncertain significance	11	791987	791987	Human	1	name
12840681	CV371744	single nucleotide variant	NM_001191061.2(SLC25A22):c.654G>A (p.Ala218=)	Developmental and epileptic encephalopathy [RCV002062767]\|Developmental and epileptic encephalopathy, 3 [RCV002502546]\|Inborn genetic diseases [RCV002365522]\|not specified [RCV000431179]	likely benign	11	792392	792392	Human	3	name
12847233	CV372470	single nucleotide variant	NM_001191061.2(SLC25A22):c.930C>T (p.Ile310=)	Developmental and epileptic encephalopathy [RCV001428268]\|Inborn genetic diseases [RCV002374634]\|not specified [RCV000443116]	likely benign	11	791957	791957	Human	2	name
12847305	CV372479	single nucleotide variant	NM_001191061.2(SLC25A22):c.609G>A (p.Val203=)	Developmental and epileptic encephalopathy [RCV001851036]\|not specified [RCV000443252]	likely benign	11	792437	792437	Human	1	name
12843173	CV372481	single nucleotide variant	NM_001191061.2(SLC25A22):c.351G>A (p.Gln117=)	Developmental and epileptic encephalopathy [RCV000944169]\|not specified [RCV000435751]	likely benign	11	792931	792931	Human	1	name
12848131	CV372733	single nucleotide variant	NM_001191061.2(SLC25A22):c.888G>A (p.Ala296=)	Developmental and epileptic encephalopathy [RCV000876390]\|Inborn genetic diseases [RCV002311499]\|not provided [RCV001704284]	likely benign	11	791999	791999	Human	2	name
597950074	CV3759317	single nucleotide variant	NM_001191061.2(SLC25A22):c.747G>A (p.Val249=)	Developmental and epileptic encephalopathy [RCV005079114]	likely benign	11	792213	792213	Human	1	name
597939581	CV3760539	single nucleotide variant	NM_001191061.2(SLC25A22):c.531G>C (p.Leu177=)	Developmental and epileptic encephalopathy [RCV005077266]	likely benign	11	792609	792609	Human	1	name
12889191	CV398455	single nucleotide variant	NM_001191061.2(SLC25A22):c.873C>T (p.Arg291=)	Developmental and epileptic encephalopathy [RCV000472334]	likely benign\|uncertain significance	11	792014	792014	Human	1	name
12884200	CV398460	single nucleotide variant	NM_001191061.2(SLC25A22):c.357C>T (p.Ile119=)	Developmental and epileptic encephalopathy [RCV001412109]	likely benign	11	792925	792925	Human	1	name
12886847	CV398901	single nucleotide variant	NM_001191061.2(SLC25A22):c.909G>A (p.Gln303=)	Developmental and epileptic encephalopathy [RCV001421931]\|not specified [RCV000615508]	likely benign	11	791978	791978	Human	1	name
13487443	CV461680	single nucleotide variant	NM_001191061.2(SLC25A22):c.681G>A (p.Val227=)	Developmental and epileptic encephalopathy [RCV000554285]\|Inborn genetic diseases [RCV002367815]	likely benign	11	792365	792365	Human	2	name
13498123	CV462309	single nucleotide variant	NM_001191061.2(SLC25A22):c.85A>T (p.Ile29Phe)	Developmental and epileptic encephalopathy [RCV000539035]	uncertain significance	11	794837	794837	Human	1	name
13527915	CV503485	single nucleotide variant	NM_001191061.2(SLC25A22):c.636C>T (p.Asn212=)	Developmental and epileptic encephalopathy [RCV001399399]\|not provided [RCV000983161]	likely benign	11	792410	792410	Human	1	name
13541537	CV504051	single nucleotide variant	NM_001191061.2(SLC25A22):c.777C>T (p.Gly259=)	Developmental and epileptic encephalopathy [RCV000863522]\|not provided [RCV001704736]	likely benign	11	792183	792183	Human	1	name
13526416	CV504055	single nucleotide variant	NM_001191061.2(SLC25A22):c.708G>A (p.Gly236=)	Developmental and epileptic encephalopathy [RCV001406807]\|not specified [RCV000604135]	likely benign	11	792338	792338	Human	1	name
13535240	CV504468	single nucleotide variant	NM_001191061.2(SLC25A22):c.681G>C (p.Val227=)	Developmental and epileptic encephalopathy [RCV005091657]\|not specified [RCV000602198]	likely benign	11	792365	792365	Human	1	name
13540383	CV504474	single nucleotide variant	NM_001191061.2(SLC25A22):c.552C>A (p.Ala184=)	Developmental and epileptic encephalopathy [RCV000690839]\|not provided [RCV001704719]	likely benign\|uncertain significance	11	792588	792588	Human	1	name
13536174	CV504477	single nucleotide variant	NM_001191061.2(SLC25A22):c.462G>T (p.Gly154=)	Developmental and epileptic encephalopathy [RCV002063133]\|not specified [RCV000608612]	likely benign	11	792678	792678	Human	1	name
13620643	CV526480	single nucleotide variant	NM_001191061.2(SLC25A22):c.786G>A (p.Glu262=)	Developmental and epileptic encephalopathy [RCV000636533]	likely benign	11	792174	792174	Human	1	name
13620759	CV526542	single nucleotide variant	NM_001191061.2(SLC25A22):c.948G>T (p.Gly316=)	Developmental and epileptic encephalopathy [RCV000636571]	likely benign	11	791939	791939	Human	1	name
13620766	CV526788	single nucleotide variant	NM_001191061.2(SLC25A22):c.903C>T (p.Ile301=)	Developmental and epileptic encephalopathy [RCV000636613]	likely benign	11	791984	791984	Human	1	name
13620780	CV527063	single nucleotide variant	NM_001191061.2(SLC25A22):c.468C>T (p.Ala156=)	Developmental and epileptic encephalopathy [RCV000636623]	likely benign	11	792672	792672	Human	1	name
13799017	CV551718	single nucleotide variant	NM_001191061.2(SLC25A22):c.46G>A (p.Gly16Ser)	Developmental and epileptic encephalopathy [RCV001065873]\|Inborn genetic diseases [RCV003163075]\|Seizure [RCV000678847]	uncertain significance	11	794876	794876	Human	4	name
13829007	CV579797	single nucleotide variant	NM_001191061.2(SLC25A22):c.453G>A (p.Ser151=)	Developmental and epileptic encephalopathy [RCV002067022]\|Early myoclonic encephalopathy [RCV001110856]\|Inborn genetic diseases [RCV002314425]	likely benign\|uncertain significance	11	792687	792687	Human	3	name
14728425	CV640470	single nucleotide variant	NM_001191061.2(SLC25A22):c.945G>A (p.Leu315=)	Developmental and epileptic encephalopathy [RCV000816509]\|not provided [RCV003424358]	likely benign\|uncertain significance	11	791942	791942	Human	1	name
14713866	CV640473	single nucleotide variant	NM_001191061.2(SLC25A22):c.702G>A (p.Val234=)	Developmental and epileptic encephalopathy [RCV000810702]\|SLC25A22-related disorder [RCV003948000]	likely benign\|uncertain significance	11	792344	792344	Human	2	name , trait , alternate_id
14742485	CV640475	single nucleotide variant	NM_001191061.2(SLC25A22):c.546C>T (p.Gly182=)	Developmental and epileptic encephalopathy [RCV000822824]	uncertain significance	11	792594	792594	Human	1	name
14735237	CV640477	single nucleotide variant	NM_001191061.2(SLC25A22):c.342C>T (p.Gly114=)	Developmental and epileptic encephalopathy [RCV000803064]	likely benign\|uncertain significance	11	792940	792940	Human	1	name
14709955	CV656099	single nucleotide variant	NM_001191061.2(SLC25A22):c.522C>T (p.Thr174=)	not provided [RCV000827571]	likely benign	11	792618	792618	Human		name
15122139	CV684268	single nucleotide variant	NM_001191061.2(SLC25A22):c.783C>T (p.Asn261=)	Developmental and epileptic encephalopathy [RCV002064446]	likely benign	11	792177	792177	Human	1	name
15139153	CV687828	single nucleotide variant	NM_001191061.2(SLC25A22):c.846G>A (p.Ser282=)	Developmental and epileptic encephalopathy [RCV001475914]	likely benign	11	792041	792041	Human	1	name
15153394	CV687829	single nucleotide variant	NM_001191061.2(SLC25A22):c.519G>T (p.Leu173=)	Developmental and epileptic encephalopathy [RCV001493382]\|Inborn genetic diseases [RCV002336794]	likely benign	11	792621	792621	Human	2	name
15178947	CV738328	single nucleotide variant	NM_001191061.2(SLC25A22):c.318G>A (p.Glu106=)	Developmental and epileptic encephalopathy [RCV003588688]	likely benign	11	792964	792964	Human	1	name
15113549	CV784225	single nucleotide variant	NM_001191061.2(SLC25A22):c.714C>T (p.Ala238=)	Developmental and epileptic encephalopathy [RCV001502434]	likely benign	11	792332	792332	Human	1	name
15123970	CV784226	single nucleotide variant	NM_001191061.2(SLC25A22):c.393G>A (p.Leu131=)	Developmental and epileptic encephalopathy [RCV000979930]	likely benign	11	792889	792889	Human	1	name
28911162	CV868859	single nucleotide variant	NM_001191061.2(SLC25A22):c.693C>T (p.Ala231=)	Developmental and epileptic encephalopathy [RCV001437122]\|Early myoclonic encephalopathy [RCV001110091]	likely benign\|uncertain significance	11	792353	792353	Human	2	name
126921474	CV1047565	single nucleotide variant	NM_001191061.2(SLC25A22):c.289G>A (p.Asp97Asn)	Developmental and epileptic encephalopathy [RCV001363539]	uncertain significance	11	793533	793533	Human	1	name
150555167	CV1295986	single nucleotide variant	NM_001191061.2(SLC25A22):c.251T>G (p.Leu84Arg)	Developmental and epileptic encephalopathy [RCV002544020]\|not provided [RCV001772495]	uncertain significance	11	793571	793571	Human	1	name
151866855	CV1342315	single nucleotide variant	NM_001191061.2(SLC25A22):c.274C>T (p.His92Tyr)	Developmental and epileptic encephalopathy [RCV001997838]	uncertain significance	11	793548	793548	Human	1	name
151813893	CV1366464	single nucleotide variant	NM_001191061.2(SLC25A22):c.124G>T (p.Gly42Cys)	Developmental and epileptic encephalopathy [RCV001933474]	uncertain significance	11	794798	794798	Human	1	name
151836382	CV1367184	single nucleotide variant	NM_001191061.2(SLC25A22):c.263A>G (p.Asp88Gly)	Developmental and epileptic encephalopathy [RCV001994234]\|Inborn genetic diseases [RCV003365620]	uncertain significance	11	793559	793559	Human	2	name
151821980	CV1385236	single nucleotide variant	NM_001191061.2(SLC25A22):c.140C>A (p.Thr47Lys)	Developmental and epileptic encephalopathy [RCV001975825]	uncertain significance	11	794782	794782	Human	1	name
151758294	CV1391666	single nucleotide variant	NM_001191061.2(SLC25A22):c.272G>A (p.Arg91Gln)	Developmental and epileptic encephalopathy [RCV002043974]	uncertain significance	11	793550	793550	Human	1	name
151774328	CV1413405	single nucleotide variant	NM_001191061.2(SLC25A22):c.154T>G (p.Cys52Gly)	Developmental and epileptic encephalopathy [RCV001971485]	uncertain significance	11	794506	794506	Human	1	name
8692868	CV142834	single nucleotide variant	NM_001191061.2(SLC25A22):c.151G>A (p.Asp51Asn)	Developmental and epileptic encephalopathy [RCV000472638]\|Early myoclonic encephalopathy [RCV000147503]\|Inborn genetic diseases [RCV002316411]\|SLC25A22-related disorder [RCV003915274]\|not provided [RCV001507783]\|not specified [RCV000178365]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	794509	794509	Human	4	name , trait , alternate_id
151725781	CV1437981	deletion	NM_001191061.2(SLC25A22):c.420del (p.Arg141fs)	Developmental and epileptic encephalopathy [RCV001891696]	pathogenic	11	792720	792720	Human	1	name
151849139	CV1439968	single nucleotide variant	NM_001191061.2(SLC25A22):c.173G>A (p.Arg58His)	Developmental and epileptic encephalopathy [RCV002016335]\|not provided [RCV002224137]	uncertain significance	11	794487	794487	Human	1	name
151821726	CV1453646	single nucleotide variant	NM_001191061.2(SLC25A22):c.139A>G (p.Thr47Ala)	Developmental and epileptic encephalopathy [RCV001879277]	uncertain significance	11	794783	794783	Human	1	name
151814074	CV1492180	single nucleotide variant	NM_001191061.2(SLC25A22):c.197A>G (p.Tyr66Cys)	Developmental and epileptic encephalopathy [RCV002029257]	uncertain significance	11	794463	794463	Human	1	name
9683819	CV168889	single nucleotide variant	NM_001191061.2(SLC25A22):c.179A>G (p.Glu60Gly)	Early myoclonic encephalopathy [RCV000147505]	uncertain significance	11	794481	794481	Human	1	name
9683818	CV168890	single nucleotide variant	NM_001191061.2(SLC25A22):c.169G>A (p.Val57Ile)	Developmental and epileptic encephalopathy [RCV000547913]\|Inborn genetic diseases [RCV002312974]\|not provided [RCV001701768]\|not specified [RCV000147504]	benign\|likely benign\|conflicting interpretations of pathogenicity	11	794491	794491	Human	2	name
9686877	CV171516	single nucleotide variant	NM_001191061.2(SLC25A22):c.178G>T (p.Glu60Ter)	Prostate cancer [RCV000149095]	uncertain significance	11	794482	794482	Human	2	name
155680641	CV1812687	single nucleotide variant	NM_001191061.2(SLC25A22):c.123C>G (p.Asn41Lys)	Inborn genetic diseases [RCV002371000]	uncertain significance	11	794799	794799	Human	1	name
155671367	CV1847345	single nucleotide variant	NM_001191061.2(SLC25A22):c.221C>T (p.Thr74Ile)	Developmental and epileptic encephalopathy [RCV003101136]\|Inborn genetic diseases [RCV002420117]	uncertain significance	11	793601	793601	Human	2	name
156434045	CV1946764	single nucleotide variant	NM_001191061.2(SLC25A22):c.131G>A (p.Arg44His)	Developmental and epileptic encephalopathy [RCV003104227]	uncertain significance	11	794791	794791	Human	1	name
10396865	CV202637	single nucleotide variant	NM_001191061.2(SLC25A22):c.292G>A (p.Gly98Arg)	Developmental and epileptic encephalopathy [RCV001060380]\|not provided [RCV000189323]	uncertain significance	11	793530	793530	Human	1	name
10396864	CV202638	single nucleotide variant	NM_001191061.2(SLC25A22):c.284C>G (p.Ser95Cys)	Developmental and epileptic encephalopathy [RCV000699404]\|not provided [RCV000189321]	uncertain significance	11	793538	793538	Human	1	name
10396859	CV202639	single nucleotide variant	NM_001191061.2(SLC25A22):c.267C>G (p.Phe89Leu)	Developmental and epileptic encephalopathy [RCV000536650]\|Early myoclonic encephalopathy [RCV000369722]\|Inborn genetic diseases [RCV002433856]\|not provided [RCV000189316]	uncertain significance	11	793555	793555	Human	3	name
10396863	CV202641	single nucleotide variant	NM_001191061.2(SLC25A22):c.140C>T (p.Thr47Met)	Developmental and epileptic encephalopathy [RCV001080737]\|Developmental and epileptic encephalopathy, 3 [RCV002054230]\|Inborn genetic diseases [RCV002390499]\|not provided [RCV000727499]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	794782	794782	Human	3	name
10396852	CV202642	single nucleotide variant	NM_001191061.2(SLC25A22):c.133G>A (p.Val45Met)	Developmental and epileptic encephalopathy [RCV002514062]\|not specified [RCV000189308]	likely benign\|uncertain significance	11	794789	794789	Human	1	name
10396862	CV202643	single nucleotide variant	NM_001191061.2(SLC25A22):c.130C>T (p.Arg44Cys)	Developmental and epileptic encephalopathy [RCV001351813]\|not provided [RCV000189319]	uncertain significance	11	794792	794792	Human	1	name
10396861	CV202644	single nucleotide variant	NM_001191061.2(SLC25A22):c.124G>A (p.Gly42Ser)	Developmental and epileptic encephalopathy [RCV000636420]\|Early myoclonic encephalopathy [RCV000765022]\|Inborn genetic diseases [RCV002517899]\|not provided [RCV000189318]	uncertain significance	11	794798	794798	Human	3	name
156355249	CV2129842	single nucleotide variant	NM_001191061.2(SLC25A22):c.169G>C (p.Val57Leu)	Developmental and epileptic encephalopathy [RCV002966606]	uncertain significance	11	794491	794491	Human	1	name
156151470	CV2131781	single nucleotide variant	NM_001191061.2(SLC25A22):c.140C>G (p.Thr47Arg)	Developmental and epileptic encephalopathy [RCV002982669]	uncertain significance	11	794782	794782	Human	1	name
156036191	CV2208340	single nucleotide variant	NM_001191061.2(SLC25A22):c.200G>A (p.Arg67Gln)	Inborn genetic diseases [RCV002691934]	uncertain significance	11	794460	794460	Human	1	name
243060616	CV2408616	single nucleotide variant	NM_001191061.2(SLC25A22):c.200G>T (p.Arg67Leu)	Developmental and epileptic encephalopathy, 3 [RCV003136745]	uncertain significance	11	794460	794460	Human	1	name
329846620	CV2523827	single nucleotide variant	NM_001191061.2(SLC25A22):c.191G>T (p.Gly64Val)	Developmental and epileptic encephalopathy, 3 [RCV003226117]	uncertain significance	11	794469	794469	Human	1	name
401961833	CV2844155	single nucleotide variant	NM_001191061.2(SLC25A22):c.133G>T (p.Val45Leu)	Developmental and epileptic encephalopathy [RCV003753297]\|not provided [RCV003481996]	likely benign\|uncertain significance	11	794789	794789	Human	1	name
407509262	CV3473970	single nucleotide variant	NM_001191061.2(SLC25A22):c.118C>A (p.Gln40Lys)	Inborn genetic diseases [RCV004672308]	uncertain significance	11	794804	794804	Human	1	name
407574462	CV3499473	single nucleotide variant	NM_001191061.2(SLC25A22):c.226G>A (p.Val76Ile)	not provided [RCV004719467]	uncertain significance	11	793596	793596	Human		name
597709813	CV3606287	single nucleotide variant	NM_001191061.2(SLC25A22):c.122A>C (p.Asn41Thr)	Inborn genetic diseases [RCV004957908]	uncertain significance	11	794800	794800	Human	1	name
12839518	CV374389	single nucleotide variant	NM_001191061.2(SLC25A22):c.190G>A (p.Gly64Ser)	Developmental and epileptic encephalopathy [RCV001208103]\|Developmental and epileptic encephalopathy, 3 [RCV003147461]\|Inborn genetic diseases [RCV002311754]\|not provided [RCV000713309]	uncertain significance	11	794470	794470	Human	3	name
12882445	CV398773	single nucleotide variant	NM_001191061.2(SLC25A22):c.254C>A (p.Ala85Glu)	Developmental and epileptic encephalopathy [RCV000459670]	uncertain significance	11	793568	793568	Human	1	name
13620497	CV526489	single nucleotide variant	NM_001191061.2(SLC25A22):c.235G>A (p.Glu79Lys)	Developmental and epileptic encephalopathy [RCV000636411]	uncertain significance	11	793587	793587	Human	1	name
13620300	CV527067	single nucleotide variant	NM_001191061.2(SLC25A22):c.271C>T (p.Arg91Ter)	Developmental and epileptic encephalopathy [RCV000636290]\|Developmental and epileptic encephalopathy, 3 [RCV002283501]	pathogenic	11	793551	793551	Human	2	name
13705804	CV536823	single nucleotide variant	NM_001191061.2(SLC25A22):c.128A>G (p.Gln43Arg)	not provided [RCV000658370]	uncertain significance	11	794794	794794	Human		name
26922906	CV839088	deletion	NM_001191061.2(SLC25A22):c.955del (p.Gln319fs)	Developmental and epileptic encephalopathy [RCV001062962]	uncertain significance	11	791932	791932	Human	1	name
26919586	CV839095	single nucleotide variant	NM_001191061.2(SLC25A22):c.149C>A (p.Ser50Tyr)	Developmental and epileptic encephalopathy [RCV001059118]	uncertain significance	11	794511	794511	Human	1	name
28871679	CV868861	single nucleotide variant	NM_001191061.2(SLC25A22):c.199C>T (p.Arg67Trp)	Developmental and epileptic encephalopathy [RCV001301763]\|Developmental and epileptic encephalopathy, 3 [RCV003992447]\|Early myoclonic encephalopathy [RCV001114202]	uncertain significance	11	794461	794461	Human	3	name
28871681	CV868862	single nucleotide variant	NM_001191061.2(SLC25A22):c.116A>G (p.Gln39Arg)	Developmental and epileptic encephalopathy [RCV001323919]\|Early myoclonic encephalopathy [RCV001114203]	uncertain significance	11	794806	794806	Human	2	name
38494464	CV926399	single nucleotide variant	NM_001191061.2(SLC25A22):c.279G>C (p.Gln93His)	Developmental and epileptic encephalopathy [RCV001224994]\|Developmental and epileptic encephalopathy, 3 [RCV003142184]	uncertain significance	11	793543	793543	Human	2	name
38490061	CV935823	single nucleotide variant	NM_001191061.2(SLC25A22):c.178G>A (p.Glu60Lys)	Developmental and epileptic encephalopathy [RCV001210484]\|not provided [RCV003229024]	uncertain significance	11	794482	794482	Human	1	name
38470101	CV935824	single nucleotide variant	NM_001191061.2(SLC25A22):c.131G>T (p.Arg44Leu)	Developmental and epileptic encephalopathy [RCV001202512]	uncertain significance	11	794791	794791	Human	1	name
38497377	CV947705	single nucleotide variant	NM_001191061.2(SLC25A22):c.172C>T (p.Arg58Cys)	Developmental and epileptic encephalopathy [RCV001227026]\|Inborn genetic diseases [RCV005278775]	uncertain significance	11	794488	794488	Human	2	name
38493684	CV956701	single nucleotide variant	NM_001191061.2(SLC25A22):c.143G>A (p.Ser48Asn)	Developmental and epileptic encephalopathy [RCV001240852]	uncertain significance	11	794779	794779	Human	1	name
126768612	CV1010009	single nucleotide variant	NM_001191061.2(SLC25A22):c.871C>T (p.Arg291Cys)	Developmental and epileptic encephalopathy [RCV001321465]\|Developmental and epileptic encephalopathy, 3 [RCV004771498]\|Inborn genetic diseases [RCV002447362]\|not provided [RCV001773642]	uncertain significance	11	792016	792016	Human	3	name
126767036	CV1010010	single nucleotide variant	NM_001191061.2(SLC25A22):c.653C>T (p.Ala218Val)	Developmental and epileptic encephalopathy [RCV001320686]\|Inborn genetic diseases [RCV002366184]\|not provided [RCV001587341]	uncertain significance	11	792393	792393	Human	2	name
126743451	CV1010011	single nucleotide variant	NM_001191061.2(SLC25A22):c.407G>T (p.Arg136Leu)	Developmental and epileptic encephalopathy [RCV001325625]	uncertain significance	11	792875	792875	Human	1	name
126769223	CV1010012	single nucleotide variant	NM_001191061.2(SLC25A22):c.406C>T (p.Arg136Cys)	Developmental and epileptic encephalopathy [RCV001321826]\|not provided [RCV001357719]	uncertain significance	11	792876	792876	Human	1	name
126732146	CV1010013	single nucleotide variant	NM_001191061.2(SLC25A22):c.340G>A (p.Gly114Ser)	Developmental and epileptic encephalopathy [RCV001313164]\|not provided [RCV004727126]	uncertain significance	11	792942	792942	Human	1	name
126922600	CV1047560	single nucleotide variant	NM_001191061.2(SLC25A22):c.929T>C (p.Ile310Thr)	Developmental and epileptic encephalopathy [RCV001364860]	uncertain significance	11	791958	791958	Human	1	name
126912249	CV1047561	single nucleotide variant	NM_001191061.2(SLC25A22):c.887C>T (p.Ala296Val)	Developmental and epileptic encephalopathy [RCV001369639]\|Inborn genetic diseases [RCV003375267]	uncertain significance	11	792000	792000	Human	2	name
126909344	CV1047563	single nucleotide variant	NM_001191061.2(SLC25A22):c.378G>A (p.Met126Ile)	Developmental and epileptic encephalopathy [RCV001368414]	uncertain significance	11	792904	792904	Human	1	name
126923335	CV1047564	single nucleotide variant	NM_001191061.2(SLC25A22):c.326C>A (p.Ala109Glu)	Developmental and epileptic encephalopathy [RCV001365724]	uncertain significance	11	792956	792956	Human	1	name
8591094	CV125902	single nucleotide variant	NM_001191061.2(SLC25A22):c.328G>C (p.Gly110Arg)	Developmental and epileptic encephalopathy, 3 [RCV002508764]	pathogenic	11	792954	792954	Human	1	name
150549472	CV1295267	single nucleotide variant	NM_001191061.2(SLC25A22):c.421A>G (p.Arg141Gly)	not provided [RCV001765167]	uncertain significance	11	792719	792719	Human		name
151780770	CV1341800	single nucleotide variant	NM_001191061.2(SLC25A22):c.869G>A (p.Cys290Tyr)	Developmental and epileptic encephalopathy [RCV001897217]	uncertain significance	11	792018	792018	Human	1	name
151824832	CV1351009	single nucleotide variant	NM_001191061.2(SLC25A22):c.425A>G (p.Lys142Arg)	Developmental and epileptic encephalopathy [RCV001919922]	uncertain significance	11	792715	792715	Human	1	name
151734941	CV1354644	single nucleotide variant	NM_001191061.2(SLC25A22):c.770A>G (p.Gln257Arg)	Developmental and epileptic encephalopathy [RCV001892646]	uncertain significance	11	792190	792190	Human	1	name
151749569	CV1358921	single nucleotide variant	NM_001191061.2(SLC25A22):c.392T>C (p.Leu131Pro)	Developmental and epileptic encephalopathy [RCV001969046]	uncertain significance	11	792890	792890	Human	1	name
151744017	CV1367985	single nucleotide variant	NM_001191061.2(SLC25A22):c.535C>T (p.Arg179Trp)	Developmental and epileptic encephalopathy [RCV001871310]\|Inborn genetic diseases [RCV002553480]	uncertain significance	11	792605	792605	Human	2	name
151878493	CV1370089	single nucleotide variant	NM_001191061.2(SLC25A22):c.757C>G (p.Leu253Val)	Developmental and epileptic encephalopathy [RCV001961340]\|Inborn genetic diseases [RCV004681365]	uncertain significance	11	792203	792203	Human	2	name
151792367	CV1375913	single nucleotide variant	NM_001191061.2(SLC25A22):c.652G>T (p.Ala218Ser)	Developmental and epileptic encephalopathy [RCV001973170]	uncertain significance	11	792394	792394	Human	1	name
151819189	CV1385823	single nucleotide variant	NM_001191061.2(SLC25A22):c.313A>G (p.Lys105Glu)	Developmental and epileptic encephalopathy [RCV002013202]	uncertain significance	11	792969	792969	Human	1	name
151880925	CV1395731	single nucleotide variant	NM_001191061.2(SLC25A22):c.358G>A (p.Val120Met)	Developmental and epileptic encephalopathy [RCV002036865]	uncertain significance	11	792924	792924	Human	1	name
151889293	CV1398758	single nucleotide variant	NM_001191061.2(SLC25A22):c.578C>A (p.Thr193Lys)	Developmental and epileptic encephalopathy [RCV001942771]	uncertain significance	11	792562	792562	Human	1	name
151791181	CV1399992	single nucleotide variant	NM_001191061.2(SLC25A22):c.467C>A (p.Ala156Asp)	Developmental and epileptic encephalopathy [RCV001916835]\|Inborn genetic diseases [RCV002558415]	uncertain significance	11	792673	792673	Human	2	name
151860926	CV1400429	single nucleotide variant	NM_001191061.2(SLC25A22):c.365C>T (p.Thr122Met)	Developmental and epileptic encephalopathy [RCV001997122]\|Inborn genetic diseases [RCV002563522]	uncertain significance	11	792917	792917	Human	2	name
151799509	CV1403890	single nucleotide variant	NM_001191061.2(SLC25A22):c.506C>A (p.Thr169Lys)	Developmental and epileptic encephalopathy [RCV001973777]	uncertain significance	11	792634	792634	Human	1	name
151723017	CV1414087	single nucleotide variant	NM_001191061.2(SLC25A22):c.416C>G (p.Ala139Gly)	Developmental and epileptic encephalopathy [RCV002020442]	uncertain significance	11	792724	792724	Human	1	name
151811887	CV1417524	single nucleotide variant	NM_001191061.2(SLC25A22):c.556C>T (p.Leu186Phe)	Developmental and epileptic encephalopathy [RCV002029048]	uncertain significance	11	792584	792584	Human	1	name
8692874	CV142840	single nucleotide variant	NM_001191061.2(SLC25A22):c.448C>G (p.Leu150Val)	Developmental and epileptic encephalopathy [RCV001509889]\|Early myoclonic encephalopathy [RCV000339837]\|Inborn genetic diseases [RCV002312600]\|not provided [RCV000713311]\|not specified [RCV000147510]	benign\|likely benign	11	792692	792692	Human	3	name
151804598	CV1430695	single nucleotide variant	NM_001191061.2(SLC25A22):c.845C>T (p.Ser282Leu)	Developmental and epileptic encephalopathy [RCV001899381]	uncertain significance	11	792042	792042	Human	1	name
151745546	CV1450458	single nucleotide variant	NM_001191061.2(SLC25A22):c.310C>T (p.Leu104Phe)	Developmental and epileptic encephalopathy [RCV001893730]	uncertain significance	11	792972	792972	Human	1	name
151734276	CV1452964	single nucleotide variant	NM_001191061.2(SLC25A22):c.836A>G (p.Glu279Gly)	Developmental and epileptic encephalopathy [RCV002041520]	uncertain significance	11	792051	792051	Human	1	name
151829230	CV1462384	single nucleotide variant	NM_001191061.2(SLC25A22):c.757C>T (p.Leu253Phe)	Developmental and epileptic encephalopathy [RCV001993544]	uncertain significance	11	792203	792203	Human	1	name
151738143	CV1469511	single nucleotide variant	NM_001191061.2(SLC25A22):c.965A>G (p.Gln322Arg)	Developmental and epileptic encephalopathy [RCV002041948]	uncertain significance	11	791922	791922	Human	1	name
151745722	CV1485094	single nucleotide variant	NM_001191061.2(SLC25A22):c.496C>T (p.Pro166Ser)	Developmental and epileptic encephalopathy [RCV002006286]	uncertain significance	11	792644	792644	Human	1	name
151739137	CV1492279	single nucleotide variant	NM_001191061.2(SLC25A22):c.550G>A (p.Ala184Thr)	Developmental and epileptic encephalopathy [RCV002042059]	uncertain significance	11	792590	792590	Human	1	name
151757132	CV1510002	single nucleotide variant	NM_001191061.2(SLC25A22):c.483G>C (p.Glu161Asp)	Developmental and epileptic encephalopathy [RCV001928096]	uncertain significance	11	792657	792657	Human	1	name
8556450	CV16814	single nucleotide variant	NM_001191061.2(SLC25A22):c.617C>T (p.Pro206Leu)	Developmental and epileptic encephalopathy [RCV001851565]\|Developmental and epileptic encephalopathy, 3 [RCV002508754]\|Early myoclonic encephalopathy [RCV000001847]	pathogenic\|likely pathogenic	11	792429	792429	Human	3	name
8556451	CV16815	single nucleotide variant	NM_001191061.2(SLC25A22):c.706G>T (p.Gly236Trp)	Developmental and epileptic encephalopathy, 3 [RCV002508755]	pathogenic	11	792340	792340	Human	1	name
153304433	CV1687012	single nucleotide variant	NM_001191061.2(SLC25A22):c.605T>C (p.Val202Ala)	not provided [RCV002262300]	uncertain significance	11	792441	792441	Human		name
155723133	CV1773562	single nucleotide variant	NM_001191061.2(SLC25A22):c.482A>G (p.Glu161Gly)	Developmental and epileptic encephalopathy [RCV002301367]	uncertain significance	11	792658	792658	Human	1	name
155741897	CV1816499	single nucleotide variant	NM_001191061.2(SLC25A22):c.784G>A (p.Glu262Lys)	Developmental and epileptic encephalopathy [RCV005097166]\|Inborn genetic diseases [RCV002412197]\|not provided [RCV003128864]	uncertain significance	11	792176	792176	Human	2	name
155690696	CV1825006	single nucleotide variant	NM_001191061.2(SLC25A22):c.938C>T (p.Ser313Phe)	Inborn genetic diseases [RCV002373862]	uncertain significance	11	791949	791949	Human	1	name
156363748	CV1881556	single nucleotide variant	NM_001191061.2(SLC25A22):c.551C>T (p.Ala184Val)	Developmental and epileptic encephalopathy [RCV003065810]	uncertain significance	11	792589	792589	Human	1	name
155971264	CV1885092	single nucleotide variant	NM_001191061.2(SLC25A22):c.658G>A (p.Glu220Lys)	Developmental and epileptic encephalopathy [RCV003075190]\|not provided [RCV004765662]	uncertain significance	11	792388	792388	Human	1	name
10049760	CV190904	single nucleotide variant	NM_001191061.2(SLC25A22):c.868T>C (p.Cys290Arg)	not provided [RCV000173899]	uncertain significance	11	792019	792019	Human		name
156155669	CV1931440	single nucleotide variant	NM_001191061.2(SLC25A22):c.523C>T (p.Arg175Cys)	Developmental and epileptic encephalopathy [RCV002664055]	uncertain significance	11	792617	792617	Human	1	name
155913016	CV1935395	single nucleotide variant	NM_001191061.2(SLC25A22):c.581T>G (p.Leu194Arg)	Developmental and epileptic encephalopathy, 3 [RCV002510728]	uncertain significance	11	792559	792559	Human	1	name
10053294	CV196070	single nucleotide variant	NM_001191061.2(SLC25A22):c.725C>T (p.Ala242Val)	Developmental and epileptic encephalopathy [RCV001063757]\|Inborn genetic diseases [RCV002515293]\|not provided [RCV000723956]	uncertain significance	11	792321	792321	Human	2	name
156235105	CV1976828	single nucleotide variant	NM_001191061.2(SLC25A22):c.872G>A (p.Arg291His)	Developmental and epileptic encephalopathy [RCV002596949]	uncertain significance	11	792015	792015	Human	1	name
156388450	CV1996003	single nucleotide variant	NM_001191061.2(SLC25A22):c.321G>C (p.Met107Ile)	Developmental and epileptic encephalopathy [RCV002654169]	uncertain significance	11	792961	792961	Human	1	name
156224451	CV2005912	single nucleotide variant	NM_001191061.2(SLC25A22):c.479T>C (p.Val160Ala)	Developmental and epileptic encephalopathy [RCV002667348]	uncertain significance	11	792661	792661	Human	1	name
10396871	CV202620	single nucleotide variant	NM_001191061.2(SLC25A22):c.874G>A (p.Ala292Thr)	Developmental and epileptic encephalopathy [RCV001235057]\|not provided [RCV000189332]	uncertain significance	11	792013	792013	Human	1	name
10398275	CV202624	single nucleotide variant	NM_001191061.2(SLC25A22):c.704C>T (p.Ala235Val)	not provided [RCV000189330]	uncertain significance	11	792342	792342	Human		name
10396870	CV202625	single nucleotide variant	NM_001191061.2(SLC25A22):c.679G>A (p.Val227Met)	Developmental and epileptic encephalopathy [RCV000636275]\|Inborn genetic diseases [RCV002314763]\|Macrocephaly [RCV000678848]\|not provided [RCV001721220]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	792367	792367	Human	5	name
10396869	CV202626	single nucleotide variant	NM_001191061.2(SLC25A22):c.562A>G (p.Lys188Glu)	Developmental and epileptic encephalopathy [RCV000809945]\|Developmental and epileptic encephalopathy, 3 [RCV001270091]\|Inborn genetic diseases [RCV002345679]\|not provided [RCV000189328]	uncertain significance	11	792578	792578	Human	3	name
10396868	CV202627	single nucleotide variant	NM_001191061.2(SLC25A22):c.551C>G (p.Ala184Gly)	Developmental and epileptic encephalopathy [RCV001337727]\|Inborn genetic diseases [RCV004020291]\|not provided [RCV000189327]	uncertain significance	11	792589	792589	Human	2	name
10396873	CV202628	single nucleotide variant	NM_001191061.2(SLC25A22):c.548T>C (p.Ile183Thr)	not provided [RCV000766829]\|not specified [RCV000189336]	uncertain significance	11	792592	792592	Human		name
10396872	CV202629	single nucleotide variant	NM_001191061.2(SLC25A22):c.541C>T (p.Arg181Cys)	Developmental and epileptic encephalopathy [RCV000469129]\|Inborn genetic diseases [RCV004955321]\|not provided [RCV000189335]	uncertain significance	11	792599	792599	Human	2	name
10396867	CV202630	single nucleotide variant	NM_001191061.2(SLC25A22):c.524G>T (p.Arg175Leu)	Developmental and epileptic encephalopathy [RCV001036017]\|Inborn genetic diseases [RCV002336502]\|not provided [RCV000189326]	uncertain significance	11	792616	792616	Human	2	name
10396856	CV202631	single nucleotide variant	NM_001191061.2(SLC25A22):c.500G>A (p.Arg167Gln)	Developmental and epileptic encephalopathy [RCV001083871]\|Early myoclonic encephalopathy [RCV000398937]\|Inborn genetic diseases [RCV002317159]\|not provided [RCV000477165]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	792640	792640	Human	3	name
10396855	CV202632	single nucleotide variant	NM_001191061.2(SLC25A22):c.464G>C (p.Gly155Ala)	Developmental and epileptic encephalopathy [RCV000692238]\|Inborn genetic diseases [RCV002314762]\|not provided [RCV000731853]	likely benign\|conflicting interpretations of pathogenicity\|drug response\|uncertain significance	11	792676	792676	Human	2	name
10398274	CV202634	single nucleotide variant	NM_001191061.2(SLC25A22):c.391C>A (p.Leu131Met)	not provided [RCV000189325]	uncertain significance	11	792891	792891	Human		name
10396866	CV202635	single nucleotide variant	NM_001191061.2(SLC25A22):c.307C>G (p.Leu103Val)	Developmental and epileptic encephalopathy [RCV001852505]\|not provided [RCV000189324]	uncertain significance	11	792975	792975	Human	1	name
155908838	CV2044701	single nucleotide variant	NM_001191061.2(SLC25A22):c.371T>C (p.Met124Thr)	Developmental and epileptic encephalopathy [RCV002771432]	uncertain significance	11	792911	792911	Human	1	name
156311682	CV2078742	single nucleotide variant	NM_001191061.2(SLC25A22):c.760C>T (p.Gln254Ter)	Developmental and epileptic encephalopathy [RCV002898754]	pathogenic	11	792200	792200	Human	1	name
10406812	CV207916	single nucleotide variant	NM_001191061.2(SLC25A22):c.418C>T (p.Gln140Ter)	Developmental and epileptic encephalopathy [RCV002517137]\|Early myoclonic encephalopathy [RCV000194231]\|not provided [RCV000578996]	pathogenic	11	792722	792722	Human	2	name
156116570	CV2086460	single nucleotide variant	NM_001191061.2(SLC25A22):c.439C>T (p.Gln147Ter)	Developmental and epileptic encephalopathy [RCV002871100]	pathogenic	11	792701	792701	Human	1	name
156024101	CV2145508	single nucleotide variant	NM_001191061.2(SLC25A22):c.430C>G (p.Leu144Val)	Developmental and epileptic encephalopathy [RCV003018371]	uncertain significance	11	792710	792710	Human	1	name
156246999	CV2145546	single nucleotide variant	NM_001191061.2(SLC25A22):c.733C>T (p.Pro245Ser)	Developmental and epileptic encephalopathy [RCV003008306]	uncertain significance	11	792313	792313	Human	1	name
155976937	CV2146610	single nucleotide variant	NM_001191061.2(SLC25A22):c.926G>A (p.Gly309Asp)	Developmental and epileptic encephalopathy [RCV003016195]	uncertain significance	11	791961	791961	Human	1	name
155984675	CV2163357	single nucleotide variant	NM_001191061.2(SLC25A22):c.734C>G (p.Pro245Arg)	Developmental and epileptic encephalopathy [RCV003034041]	uncertain significance	11	792312	792312	Human	1	name
156318343	CV2169513	single nucleotide variant	NM_001191061.2(SLC25A22):c.385A>G (p.Ile129Val)	Developmental and epileptic encephalopathy [RCV003028998]	uncertain significance	11	792897	792897	Human	1	name
156370955	CV2188664	single nucleotide variant	NM_001191061.2(SLC25A22):c.899G>T (p.Gly300Val)	Developmental and epileptic encephalopathy [RCV003066281]	uncertain significance	11	791988	791988	Human	1	name
243060614	CV2408614	single nucleotide variant	NM_001191061.2(SLC25A22):c.955C>T (p.Gln319Ter)	Developmental and epileptic encephalopathy, 3 [RCV003136743]	uncertain significance	11	791932	791932	Human	1	name
243060704	CV2408615	single nucleotide variant	NM_001191061.2(SLC25A22):c.674T>G (p.Phe225Cys)	Developmental and epileptic encephalopathy, 3 [RCV003136744]	uncertain significance	11	792372	792372	Human	1	name
401879206	CV2787935	single nucleotide variant	NM_001191061.2(SLC25A22):c.316G>A (p.Glu106Lys)	Inborn genetic diseases [RCV003384583]\|not provided [RCV004763670]	uncertain significance	11	792966	792966	Human	1	name
404999400	CV2851038	single nucleotide variant	NM_001191061.2(SLC25A22):c.407G>A (p.Arg136His)	Developmental and epileptic encephalopathy, 3 [RCV003493160]	uncertain significance	11	792875	792875	Human	1	name
405188925	CV2859425	single nucleotide variant	NM_001191061.2(SLC25A22):c.658G>T (p.Glu220Ter)	Developmental and epileptic encephalopathy [RCV003589714]	pathogenic	11	792388	792388	Human	1	name
405177738	CV2886744	single nucleotide variant	NM_001191061.2(SLC25A22):c.862G>A (p.Ala288Thr)	Developmental and epileptic encephalopathy [RCV003588291]	uncertain significance	11	792025	792025	Human	1	name
11649010	CV315313	single nucleotide variant	NM_001191061.2(SLC25A22):c.463G>T (p.Gly155Cys)	Early myoclonic encephalopathy [RCV000284882]	uncertain significance	11	792677	792677	Human	1	name
11663069	CV322150	single nucleotide variant	NM_001191061.2(SLC25A22):c.401C>T (p.Ala134Val)	Developmental and epileptic encephalopathy [RCV000703931]\|Early myoclonic encephalopathy [RCV000391910]	uncertain significance	11	792881	792881	Human	2	name
405767767	CV3325456	single nucleotide variant	NM_001191061.2(SLC25A22):c.721G>A (p.Val241Met)	Inborn genetic diseases [RCV004456438]	uncertain significance	11	792325	792325	Human	1	name
405767772	CV3325457	single nucleotide variant	NM_001191061.2(SLC25A22):c.761A>G (p.Gln254Arg)	Inborn genetic diseases [RCV004456439]	uncertain significance	11	792199	792199	Human	1	name
405767778	CV3325458	single nucleotide variant	NM_001191061.2(SLC25A22):c.966G>C (p.Gln322His)	Inborn genetic diseases [RCV004456440]	uncertain significance	11	791921	791921	Human	1	name
407451238	CV3473968	single nucleotide variant	NM_001191061.2(SLC25A22):c.715G>A (p.Ala239Thr)	Inborn genetic diseases [RCV004683598]	uncertain significance	11	792331	792331	Human	1	name
408394268	CV3521883	single nucleotide variant	NM_001191061.2(SLC25A22):c.737G>A (p.Cys246Tyr)	Developmental and epileptic encephalopathy, 3 [RCV004764682]	uncertain significance	11	792309	792309	Human	1	name
408389326	CV3523017	single nucleotide variant	NM_001191061.2(SLC25A22):c.488C>T (p.Pro163Leu)	not provided [RCV004769398]	uncertain significance	11	792652	792652	Human		name
408388681	CV3529087	single nucleotide variant	NM_001191061.2(SLC25A22):c.600C>G (p.Phe200Leu)	not provided [RCV004773909]	uncertain significance	11	792446	792446	Human		name
597709821	CV3606288	single nucleotide variant	NM_001191061.2(SLC25A22):c.834C>G (p.His278Gln)	Inborn genetic diseases [RCV004957909]	uncertain significance	11	792053	792053	Human	1	name
597901466	CV3779105	single nucleotide variant	NM_001191061.2(SLC25A22):c.698G>C (p.Cys233Ser)	Developmental and epileptic encephalopathy [RCV005127182]	uncertain significance	11	792348	792348	Human	1	name
597869298	CV3784067	single nucleotide variant	NM_001191061.2(SLC25A22):c.452C>A (p.Ser151Ter)	Developmental and epileptic encephalopathy [RCV005122371]	pathogenic	11	792688	792688	Human	1	name
597955443	CV3796186	single nucleotide variant	NM_001191061.2(SLC25A22):c.782A>G (p.Asn261Ser)	Developmental and epileptic encephalopathy [RCV005137003]	uncertain significance	11	792178	792178	Human	1	name
12902417	CV408486	single nucleotide variant	NM_001191061.2(SLC25A22):c.647G>A (p.Arg216His)	Developmental and epileptic encephalopathy [RCV001239283]\|Inborn genetic diseases [RCV002318572]\|not provided [RCV000487033]	uncertain significance	11	792399	792399	Human	2	name
12900259	CV408488	single nucleotide variant	NM_001191061.2(SLC25A22):c.506C>T (p.Thr169Met)	Developmental and epileptic encephalopathy [RCV001865429]\|Inborn genetic diseases [RCV003168941]\|not provided [RCV000482007]	uncertain significance	11	792634	792634	Human	2	name
13213147	CV429321	single nucleotide variant	NM_001191061.2(SLC25A22):c.394C>T (p.Gln132Ter)	Developmental and epileptic encephalopathy [RCV000636291]\|Early myoclonic encephalopathy [RCV000499673]	pathogenic\|likely pathogenic	11	792888	792888	Human	2	name
13484701	CV461466	single nucleotide variant	NM_001191061.2(SLC25A22):c.797C>T (p.Ser266Phe)	Developmental and epileptic encephalopathy [RCV000530452]	uncertain significance	11	792163	792163	Human	1	name
13502142	CV461467	single nucleotide variant	NM_001191061.2(SLC25A22):c.646C>T (p.Arg216Cys)	Developmental and epileptic encephalopathy [RCV000541689]\|Inborn genetic diseases [RCV004023852]	uncertain significance	11	792400	792400	Human	2	name
13491760	CV461991	single nucleotide variant	NM_001191061.2(SLC25A22):c.967G>A (p.Ala323Thr)	Developmental and epileptic encephalopathy [RCV000556962]	uncertain significance	11	791920	791920	Human	1	name
13488457	CV461994	single nucleotide variant	NM_001191061.2(SLC25A22):c.883A>G (p.Ile295Val)	Developmental and epileptic encephalopathy [RCV000532376]	uncertain significance	11	792004	792004	Human	1	name
13479837	CV461995	single nucleotide variant	NM_001191061.2(SLC25A22):c.452C>T (p.Ser151Leu)	Developmental and epileptic encephalopathy [RCV000528273]\|Inborn genetic diseases [RCV004023851]\|not provided [RCV001584262]	uncertain significance	11	792688	792688	Human	2	name
13705410	CV536822	single nucleotide variant	NM_001191061.2(SLC25A22):c.524G>A (p.Arg175His)	Developmental and epileptic encephalopathy [RCV000822756]\|Developmental and epileptic encephalopathy, 3 [RCV003140051]\|not provided [RCV000657937]	uncertain significance	11	792616	792616	Human	2	name
13822607	CV564910	single nucleotide variant	NM_001191061.2(SLC25A22):c.788A>C (p.Asp263Ala)	Developmental and epileptic encephalopathy [RCV000697523]	uncertain significance	11	792172	792172	Human	1	name
13812334	CV566196	single nucleotide variant	NM_001191061.2(SLC25A22):c.541C>G (p.Arg181Gly)	Developmental and epileptic encephalopathy [RCV000689381]	uncertain significance	11	792599	792599	Human	1	name
13822551	CV567554	single nucleotide variant	NM_001191061.2(SLC25A22):c.553G>A (p.Gly185Ser)	Developmental and epileptic encephalopathy [RCV000697472]\|Early myoclonic encephalopathy [RCV000765021]\|not provided [RCV000994536]	uncertain significance	11	792587	792587	Human	2	name
13813078	CV571009	single nucleotide variant	NM_001191061.2(SLC25A22):c.754C>T (p.Arg252Trp)	Developmental and epileptic encephalopathy [RCV000689898]\|Early myoclonic encephalopathy [RCV000985196]\|not provided [RCV000757772]	likely pathogenic\|uncertain significance	11	792206	792206	Human	2	name
13830494	CV580038	single nucleotide variant	NM_001191061.2(SLC25A22):c.344C>T (p.Thr115Ile)	Developmental and epileptic encephalopathy [RCV002534976]\|Inborn genetic diseases [RCV002317612]	uncertain significance	11	792938	792938	Human	2	name
14399309	CV614552	single nucleotide variant	NM_001191061.2(SLC25A22):c.818G>A (p.Arg273Lys)	Early myoclonic encephalopathy [RCV000768417]	pathogenic	11	792142	792142	Human	1	name
14731728	CV640471	single nucleotide variant	NM_001191061.2(SLC25A22):c.932C>T (p.Ala311Val)	Developmental and epileptic encephalopathy [RCV000817984]	uncertain significance	11	791955	791955	Human	1	name
14720756	CV640472	single nucleotide variant	NM_001191061.2(SLC25A22):c.875C>T (p.Ala292Val)	Developmental and epileptic encephalopathy [RCV000796800]\|not provided [RCV002263987]	uncertain significance	11	792012	792012	Human	1	name
14727172	CV640474	single nucleotide variant	NM_001191061.2(SLC25A22):c.650C>T (p.Pro217Leu)	Developmental and epileptic encephalopathy [RCV000799532]\|Inborn genetic diseases [RCV003344056]	uncertain significance	11	792396	792396	Human	2	name
14720545	CV640476	single nucleotide variant	NM_001191061.2(SLC25A22):c.536G>A (p.Arg179Gln)	Developmental and epileptic encephalopathy [RCV000813069]\|Inborn genetic diseases [RCV004962840]	uncertain significance	11	792604	792604	Human	2	name
14742333	CV640478	single nucleotide variant	NM_001191061.2(SLC25A22):c.319A>G (p.Met107Val)	Developmental and epileptic encephalopathy [RCV000822725]	uncertain significance	11	792963	792963	Human	1	name
14714378	CV666309	duplication	NM_001191061.2(SLC25A22):c.-163-262_-163-244dup	not provided [RCV000829019]	benign	11	795412	795413	Human		name
26890092	CV839089	single nucleotide variant	NM_001191061.2(SLC25A22):c.898G>A (p.Gly300Ser)	Developmental and epileptic encephalopathy [RCV001045875]	uncertain significance	11	791989	791989	Human	1	name
26904562	CV839090	single nucleotide variant	NM_001191061.2(SLC25A22):c.880G>C (p.Val294Leu)	Developmental and epileptic encephalopathy [RCV001036618]	uncertain significance	11	792007	792007	Human	1	name
26901946	CV839091	single nucleotide variant	NM_001191061.2(SLC25A22):c.808G>C (p.Asp270His)	Developmental and epileptic encephalopathy [RCV001035817]	uncertain significance	11	792152	792152	Human	1	name
26889352	CV839092	single nucleotide variant	NM_001191061.2(SLC25A22):c.494C>T (p.Ala165Val)	Developmental and epileptic encephalopathy [RCV001045598]\|Inborn genetic diseases [RCV002339229]	uncertain significance	11	792646	792646	Human	2	name
26895415	CV839093	single nucleotide variant	NM_001191061.2(SLC25A22):c.493G>A (p.Ala165Thr)	Developmental and epileptic encephalopathy [RCV001047890]\|Inborn genetic diseases [RCV003346278]\|not provided [RCV001772250]	uncertain significance	11	792647	792647	Human	2	name
26914871	CV839094	single nucleotide variant	NM_001191061.2(SLC25A22):c.409A>G (p.Ile137Val)	Developmental and epileptic encephalopathy [RCV001040964]	uncertain significance	11	792873	792873	Human	1	name
28871534	CV868858	single nucleotide variant	NM_001191061.2(SLC25A22):c.959A>G (p.Asp320Gly)	Early myoclonic encephalopathy [RCV001114122]	uncertain significance	11	791928	791928	Human	1	name
28911610	CV868860	single nucleotide variant	NM_001191061.2(SLC25A22):c.497C>G (p.Pro166Arg)	Early myoclonic encephalopathy [RCV001110854]	uncertain significance	11	792643	792643	Human	1	name
38479566	CV926397	single nucleotide variant	NM_001191061.2(SLC25A22):c.829C>T (p.Arg277Trp)	Developmental and epileptic encephalopathy [RCV001217169]\|Inborn genetic diseases [RCV003163670]	uncertain significance	11	792058	792058	Human	2	name
38490384	CV926398	single nucleotide variant	NM_001191061.2(SLC25A22):c.731A>G (p.Asn244Ser)	Developmental and epileptic encephalopathy [RCV001222127]\|not provided [RCV001587246]	uncertain significance	11	792315	792315	Human	1	name
38456745	CV935821	single nucleotide variant	NM_001191061.2(SLC25A22):c.830G>A (p.Arg277Gln)	Developmental and epileptic encephalopathy [RCV001210918]	uncertain significance	11	792057	792057	Human	1	name
38481484	CV935822	single nucleotide variant	NM_001191061.2(SLC25A22):c.752C>T (p.Thr251Met)	Developmental and epileptic encephalopathy [RCV001206857]\|not provided [RCV003425991]	uncertain significance	11	792208	792208	Human	1	name
38458946	CV956700	single nucleotide variant	NM_001191061.2(SLC25A22):c.415G>T (p.Ala139Ser)	Developmental and epileptic encephalopathy [RCV001246479]	uncertain significance	11	792725	792725	Human	1	name
126747897	CV994815	single nucleotide variant	NM_001191061.2(SLC25A22):c.661G>A (p.Glu221Lys)	Developmental and epileptic encephalopathy [RCV001306329]	uncertain significance	11	792385	792385	Human	1	name
126749050	CV994816	single nucleotide variant	NM_001191061.2(SLC25A22):c.578C>T (p.Thr193Met)	Developmental and epileptic encephalopathy [RCV001297058]	uncertain significance	11	792562	792562	Human	1	name
126767789	CV994817	single nucleotide variant	NM_001191061.2(SLC25A22):c.521C>T (p.Thr174Ile)	Developmental and epileptic encephalopathy [RCV001302421]	uncertain significance	11	792619	792619	Human	1	name
126749223	CV994818	single nucleotide variant	NM_001191061.2(SLC25A22):c.415G>A (p.Ala139Thr)	Developmental and epileptic encephalopathy [RCV001306585]	uncertain significance	11	792725	792725	Human	1	name
13535271	CV503497	indel	NM_001191061.2(SLC25A22):c.-163-5_-163-4delinsCT	not specified [RCV000602221]	likely benign	11	795173	795174	Human		name
126740924	CV1020953	microsatellite	NM_001191061.2(SLC25A22):c.658GAG[1] (p.Glu221del)	Developmental and epileptic encephalopathy, 3 [RCV001336125]	uncertain significance	11	792383	792385	Human		name
151818400	CV1505990	duplication	NM_001191061.2(SLC25A22):c.779_783dup (p.Glu262fs)	Developmental and epileptic encephalopathy [RCV002049545]	uncertain significance	11	792176	792177	Human	1	name
14393247	CV610292	microsatellite	NM_001191061.2(SLC25A22):c.813_814del (p.Ala272fs)	Early myoclonic encephalopathy [RCV000757784]	pathogenic	11	792146	792147	Human		name
151777175	CV1452789	duplication	NM_001191061.2(SLC25A22):c.730_735dup (p.Asn244_Pro245dup)	Developmental and epileptic encephalopathy [RCV001875021]	uncertain significance	11	792310	792311	Human	1	name
10398277	CV202623	deletion	NM_001191061.2(SLC25A22):c.735_736del (p.Pro245_Cys246insTer)	Developmental and epileptic encephalopathy [RCV000636391]\|not provided [RCV000189333]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	11	792310	792311	Human	1	name

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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